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. |
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| 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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