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Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.

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Title: Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
Authors: Martinez-Cayuelas E; Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain., Blanco-Kelly F; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain., Lopez-Grondona F; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain., Swafiri ST; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain., Lopez-Rodriguez R; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.; School of Pharmacy, Universidad San Pablo CEU. CEU Universities, Madrid, Spain., Losada-Del Pozo R; Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain., Mahillo-Fernandez I; Department of Statistics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain., Moreno B; Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain., Rodrigo-Moreno M; Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain., Casas-Alba D; Clinical Genetics and Dysmorphology, Department of Genetic and Molecular Medicine, Pediatric Insitute of Rare Diseases (IPER), Hospital Sant Joan de Deu, Barcelona, Spain., Lopez-Gonzalez A; Clinical Genetics and Dysmorphology, Department of Genetic and Molecular Medicine, Pediatric Insitute of Rare Diseases (IPER), Hospital Sant Joan de Deu, Barcelona, Spain., García-Miñaúr S; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain., Ángeles Mori M; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain., Pacio-Minguez M; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain., Rikeros-Orozco E; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain., Santos-Simarro F; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain., Cruz-Rojo J; Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain.; Endocrinology Unit, Department of Pediatrics, Hospital Universitario 12 de Octubre, Madrid, Spain., Quesada-Espinosa JF; Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain.; Department of Genetics, Hospital Universitario 12 de Octubre, Madrid, Spain., Sanchez-Calvin MT; Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain.; Department of Genetics, Hospital Universitario 12 de Octubre, Madrid, Spain., Sanchez-Del Pozo J; Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain.; Endocrinology Unit, Department of Pediatrics, Hospital Universitario 12 de Octubre, Madrid, Spain., Bernado Fonz R; Pediatric Neurology Unit, Department of Pediatrics, Navarrabiomed Pediatric Neurology Research Group, Hospital Universitario de Navarra, Pamplona, Spain., Isidoro-Garcia M; Department of Biochemistry, Hospital Universitario de Salamanca. IBSAL Universidad de Salamanca, Salamanca, Spain., Ruiz-Ayucar I; Department of Pediatrics, Hospital Universitario de Salamanca, Salamanca, Spain., Alvarez-Mora MI; Department of Biochemistry and Molecular Genetics, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), Hospital Clinic de Barcelona, Barcelona, Spain., Blanco-Lago R; Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario Central de Asturias, Oviedo, Spain., De Azua B; Department of Pediatrics, Hospital Son Llàtzer, Palma de Mallorca, Spain., Eiris J; Department of Pediatric Neurology, Hospital Universitario de Santiago de Compostela, Santiago de Compostela, Spain., Garcia-Peñas JJ; Pediatric Neurology Unit, Department of Pediatrics, Hospital Infantil Universitario Niño Jesús, Madrid, Spain., Gil-Fournier B; Department of Genetics, Hospital Universitario de Getafe, Madrid, Spain., Gomez-Lado C; Department of Pediatric Neurology, Hospital Universitario de Santiago de Compostela, Santiago de Compostela, Spain., Irazabal N; Department of Pediatrics, Hospital Can Misses, Eivissa, Spain., Lopez-Gonzalez V; Medical Genetics Unit, Department of Genetics, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain., Madrigal I; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Department of Biochemistry and Molecular Genetics, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), Hospital Clinic de Barcelona, Barcelona, Spain., Malaga I; Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario Central de Asturias, Oviedo, Spain., Martinez-Menendez B; Pediatric Neurology Unit, Department of Neurology, Hospital Universitario de Getafe, Madrid, Spain., Ramiro-Leon S; Department of Genetics, Hospital Universitario de Getafe, Madrid, Spain., Garcia-Hoyos M; Genetic Diagnosis Service, NIMGenetics Genomics and Medicine, Madrid, Spain., Prieto-Matos P; Department of Pediatrics, Hospital Universitario de Salamanca, Salamanca, Spain., Lopez-Pison J; Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario Miguel Servet, Zaragoza, Spain., Aguilera-Albesa S; Pediatric Neurology Unit, Department of Pediatrics, Navarrabiomed Pediatric Neurology Research Group, Hospital Universitario de Navarra, Pamplona, Spain., Alvarez S; Genetic Diagnosis Service, NIMGenetics Genomics and Medicine, Madrid, Spain., Fernández-Jaén A; Department of Pediatric Neurology, Hospital Universitario Quironsalud Madrid, Madrid, Spain., Llano-Rivas I; Department of Genetics, Hospital Universitario de Cruces. Biocruces Bizcaia Health Research Institute, Bizcaia, Spain., Gener-Querol B; Department of Genetics, Hospital Universitario de Cruces. Biocruces Bizcaia Health Research Institute, Bizcaia, Spain., Ayuso C; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain., Arteche-Lopez A; Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain.; Department of Genetics, Hospital Universitario 12 de Octubre, Madrid, Spain., Palomares-Bralo M; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain., Cueto-González A; Department of Clinical and Molecular Genetics, Vall d'Hebron Research Institute, Hospital Universitario Vall d'Hebron, Barcelona, Spain., Valenzuela I; Department of Clinical and Molecular Genetics, Vall d'Hebron Research Institute, Hospital Universitario Vall d'Hebron, Barcelona, Spain., Martinez-Monseny A; Clinical Genetics and Dysmorphology, Department of Genetic and Molecular Medicine, Pediatric Insitute of Rare Diseases (IPER), Hospital Sant Joan de Deu, Barcelona, Spain., Lorda-Sanchez I; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain., Almoguera B; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain balmoguera@quironsalud.es.; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.
Source: Journal of medical genetics [J Med Genet] 2023 Jul; Vol. 60 (7), pp. 644-654. Date of Electronic Publication: 2022 Nov 29.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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DbLabel: MEDLINE Ultimate
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PubType: Academic Journal
PubTypeId: academicJournal
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  Label: Title
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  Data: Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
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  Label: Authors
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  Data: <searchLink fieldCode="AU" term="%22Martinez-Cayuelas+E%22">Martinez-Cayuelas E</searchLink>; Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Blanco-Kelly+F%22">Blanco-Kelly F</searchLink>; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Lopez-Grondona+F%22">Lopez-Grondona F</searchLink>; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Swafiri+ST%22">Swafiri ST</searchLink>; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Lopez-Rodriguez+R%22">Lopez-Rodriguez R</searchLink>; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.; School of Pharmacy, Universidad San Pablo CEU. CEU Universities, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Losada-Del+Pozo+R%22">Losada-Del Pozo R</searchLink>; Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Mahillo-Fernandez+I%22">Mahillo-Fernandez I</searchLink>; Department of Statistics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Moreno+B%22">Moreno B</searchLink>; Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Rodrigo-Moreno+M%22">Rodrigo-Moreno M</searchLink>; Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Casas-Alba+D%22">Casas-Alba D</searchLink>; Clinical Genetics and Dysmorphology, Department of Genetic and Molecular Medicine, Pediatric Insitute of Rare Diseases (IPER), Hospital Sant Joan de Deu, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Lopez-Gonzalez+A%22">Lopez-Gonzalez A</searchLink>; Clinical Genetics and Dysmorphology, Department of Genetic and Molecular Medicine, Pediatric Insitute of Rare Diseases (IPER), Hospital Sant Joan de Deu, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22García-Miñaúr+S%22">García-Miñaúr S</searchLink>; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Ángeles+Mori+M%22">Ángeles Mori M</searchLink>; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Pacio-Minguez+M%22">Pacio-Minguez M</searchLink>; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Rikeros-Orozco+E%22">Rikeros-Orozco E</searchLink>; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Santos-Simarro+F%22">Santos-Simarro F</searchLink>; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Cruz-Rojo+J%22">Cruz-Rojo J</searchLink>; Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain.; Endocrinology Unit, Department of Pediatrics, Hospital Universitario 12 de Octubre, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Quesada-Espinosa+JF%22">Quesada-Espinosa JF</searchLink>; Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain.; Department of Genetics, Hospital Universitario 12 de Octubre, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Sanchez-Calvin+MT%22">Sanchez-Calvin MT</searchLink>; Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain.; Department of Genetics, Hospital Universitario 12 de Octubre, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Sanchez-Del+Pozo+J%22">Sanchez-Del Pozo J</searchLink>; Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain.; Endocrinology Unit, Department of Pediatrics, Hospital Universitario 12 de Octubre, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Bernado+Fonz+R%22">Bernado Fonz R</searchLink>; Pediatric Neurology Unit, Department of Pediatrics, Navarrabiomed Pediatric Neurology Research Group, Hospital Universitario de Navarra, Pamplona, Spain.<br /><searchLink fieldCode="AU" term="%22Isidoro-Garcia+M%22">Isidoro-Garcia M</searchLink>; Department of Biochemistry, Hospital Universitario de Salamanca. IBSAL Universidad de Salamanca, Salamanca, Spain.<br /><searchLink fieldCode="AU" term="%22Ruiz-Ayucar+I%22">Ruiz-Ayucar I</searchLink>; Department of Pediatrics, Hospital Universitario de Salamanca, Salamanca, Spain.<br /><searchLink fieldCode="AU" term="%22Alvarez-Mora+MI%22">Alvarez-Mora MI</searchLink>; Department of Biochemistry and Molecular Genetics, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), Hospital Clinic de Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Blanco-Lago+R%22">Blanco-Lago R</searchLink>; Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario Central de Asturias, Oviedo, Spain.<br /><searchLink fieldCode="AU" term="%22De+Azua+B%22">De Azua B</searchLink>; Department of Pediatrics, Hospital Son Llàtzer, Palma de Mallorca, Spain.<br /><searchLink fieldCode="AU" term="%22Eiris+J%22">Eiris J</searchLink>; Department of Pediatric Neurology, Hospital Universitario de Santiago de Compostela, Santiago de Compostela, Spain.<br /><searchLink fieldCode="AU" term="%22Garcia-Peñas+JJ%22">Garcia-Peñas JJ</searchLink>; Pediatric Neurology Unit, Department of Pediatrics, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Gil-Fournier+B%22">Gil-Fournier B</searchLink>; Department of Genetics, Hospital Universitario de Getafe, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Gomez-Lado+C%22">Gomez-Lado C</searchLink>; Department of Pediatric Neurology, Hospital Universitario de Santiago de Compostela, Santiago de Compostela, Spain.<br /><searchLink fieldCode="AU" term="%22Irazabal+N%22">Irazabal N</searchLink>; Department of Pediatrics, Hospital Can Misses, Eivissa, Spain.<br /><searchLink fieldCode="AU" term="%22Lopez-Gonzalez+V%22">Lopez-Gonzalez V</searchLink>; Medical Genetics Unit, Department of Genetics, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain.<br /><searchLink fieldCode="AU" term="%22Madrigal+I%22">Madrigal I</searchLink>; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Department of Biochemistry and Molecular Genetics, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), Hospital Clinic de Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Malaga+I%22">Malaga I</searchLink>; Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario Central de Asturias, Oviedo, Spain.<br /><searchLink fieldCode="AU" term="%22Martinez-Menendez+B%22">Martinez-Menendez B</searchLink>; Pediatric Neurology Unit, Department of Neurology, Hospital Universitario de Getafe, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Ramiro-Leon+S%22">Ramiro-Leon S</searchLink>; Department of Genetics, Hospital Universitario de Getafe, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Garcia-Hoyos+M%22">Garcia-Hoyos M</searchLink>; Genetic Diagnosis Service, NIMGenetics Genomics and Medicine, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Prieto-Matos+P%22">Prieto-Matos P</searchLink>; Department of Pediatrics, Hospital Universitario de Salamanca, Salamanca, Spain.<br /><searchLink fieldCode="AU" term="%22Lopez-Pison+J%22">Lopez-Pison J</searchLink>; Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario Miguel Servet, Zaragoza, Spain.<br /><searchLink fieldCode="AU" term="%22Aguilera-Albesa+S%22">Aguilera-Albesa S</searchLink>; Pediatric Neurology Unit, Department of Pediatrics, Navarrabiomed Pediatric Neurology Research Group, Hospital Universitario de Navarra, Pamplona, Spain.<br /><searchLink fieldCode="AU" term="%22Alvarez+S%22">Alvarez S</searchLink>; Genetic Diagnosis Service, NIMGenetics Genomics and Medicine, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Fernández-Jaén+A%22">Fernández-Jaén A</searchLink>; Department of Pediatric Neurology, Hospital Universitario Quironsalud Madrid, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Llano-Rivas+I%22">Llano-Rivas I</searchLink>; Department of Genetics, Hospital Universitario de Cruces. Biocruces Bizcaia Health Research Institute, Bizcaia, Spain.<br /><searchLink fieldCode="AU" term="%22Gener-Querol+B%22">Gener-Querol B</searchLink>; Department of Genetics, Hospital Universitario de Cruces. Biocruces Bizcaia Health Research Institute, Bizcaia, Spain.<br /><searchLink fieldCode="AU" term="%22Ayuso+C%22">Ayuso C</searchLink>; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Arteche-Lopez+A%22">Arteche-Lopez A</searchLink>; Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain.; Department of Genetics, Hospital Universitario 12 de Octubre, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Palomares-Bralo+M%22">Palomares-Bralo M</searchLink>; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Cueto-González+A%22">Cueto-González A</searchLink>; Department of Clinical and Molecular Genetics, Vall d'Hebron Research Institute, Hospital Universitario Vall d'Hebron, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Valenzuela+I%22">Valenzuela I</searchLink>; Department of Clinical and Molecular Genetics, Vall d'Hebron Research Institute, Hospital Universitario Vall d'Hebron, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Martinez-Monseny+A%22">Martinez-Monseny A</searchLink>; Clinical Genetics and Dysmorphology, Department of Genetic and Molecular Medicine, Pediatric Insitute of Rare Diseases (IPER), Hospital Sant Joan de Deu, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Lorda-Sanchez+I%22">Lorda-Sanchez I</searchLink>; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Almoguera+B%22">Almoguera B</searchLink>; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain balmoguera@quironsalud.es.; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.
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  Data: <searchLink fieldCode="JN" term="%222985087R%22">Journal of medical genetics</searchLink> [J Med Genet] 2023 Jul; Vol. 60 (7), pp. 644-654. <i>Date of Electronic Publication: </i>2022 Nov 29.
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          Dates:
            – D: 01
              M: 07
              Text: 2023 Jul
              Type: published
              Y: 2023
          Identifiers:
            – Type: issn-electronic
              Value: 1468-6244
          Numbering:
            – Type: volume
              Value: 60
            – Type: issue
              Value: 7
          Titles:
            – TitleFull: Journal of medical genetics
              Type: main
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