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Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.

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Title: Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.
Authors: Sentchordi-Montané L; Institute of Medical and Molecular Genetics (INGEMM); IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; Department of Pediatrics, Hospital Universitario Infanta Leonor, Madrid, Spain.; Department of Pediatrics, School of Medicine, Complutense University of Madrid, Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain., Benito-Sanz S; Institute of Medical and Molecular Genetics (INGEMM); IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain., Aza-Carmona M; Institute of Medical and Molecular Genetics (INGEMM); IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain., Pereda A; Rare Diseases Research Group, Molecular (Epi)Genetics Laboratory, BioAraba Health Research Institute, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Araba, Spain., Parrón-Pajares M; Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain.; Department of Radiology, Hospital Universitario La Paz, Madrid, Spain., de la Torre C; Institute of Medical and Molecular Genetics (INGEMM); IdiPAZ, Hospital Universitario La Paz, Madrid, Spain., Vasques GA; Unidades de Endocrinologia Genetica (LIM/25), Hospital das Clinicas da Faculdades de Medicina, Universidades de São Paulo, São Paulo, Universidades de São Paulo, São Paulo, Brazil.; Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil., Funari MFA; Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil., Travessa AM; Serviςo de Genética Médica, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal., Dias P; Serviςo de Genética Médica, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal., Suarez-Ortega L; Division of Endocrinology, Hospital Sant Joan de Déu, Barcelona, Spain., González-Buitrago J; Department of Pediatrics. Hospital San Pedro de Alcántara, Cáceres, Spain., Portillo-Najera NE; Department of Pediatrics, Hospital Alto Deba, 20500 Arrasate, Guipuzkoa, Spain., Llano-Rivas I; Osakidetza Basque Health Service, Cruces University Hospital Department of Genetics, Barakaldo, Bizkaia, Spain., Martín-Frías M; Department of Pediatric Endocrinology, Hospital Universitario Ramón y Cajal, Madrid, Spain., Ramírez-Fernández J; Department of Pediatrics, Hospital Universitario Príncipe de Asturias, Madrid, Spain., Sánchez Del Pozo J; Department of Pediatric Endocrinology, Hospital Universitario Doce de Octubre, Madrid, Spain., Garzón-Lorenzo L; Department of Pediatric Endocrinology, Hospital Universitario Doce de Octubre, Madrid, Spain., Martos-Moreno GA; Department of Endocrinology, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación Sanitaria La Princesa, Madrid, Spain.; Department of Pediatrics, School of Medicine, Universidad Autónoma de Madrid, Madrid, Spain.; CIBEROBN, ISCIII, Madrid, Spain., Alfaro-Iznaola C; Department of Pediatrics, Hospital Universitario Rey Juan Carlos, Móstoles, Madrid, Spain., Mulero-Collantes I; Department of Pediatrics, Hospital Universitario Río Hortega, Valladolid, Spain., Ruiz-Ocaña P; Department of Pediatrics, Hospital Universitario Puerta del Mar, Cádiz, Spain., Casano-Sancho P; Department of Pediatric Endocrinology, Institut de Recerca Pediàtrica, Hospital Sant Joan de Déu, University of Barcelona, 08950 Espluges de Llobregat, Barcelona, Spain and CIBERDEM, ISCIII, Madrid, Spain., Portela A; Department of Pediatric Endocrinology, Pediatric Unit, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerif, Spain., Ruiz-Pérez L; Department of Pediatric Endocrinology, Hospital General Universitario de Alicante, Alicante, Spain., Del Pozo A; Department of Pediatrics, School of Medicine, Complutense University of Madrid, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain., Vallespín E; Department of Pediatrics, School of Medicine, Complutense University of Madrid, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain., Solís M; Department of Pediatrics, School of Medicine, Complutense University of Madrid, Madrid, Spain., Lerario AM; Unidades de Endocrinologia Genetica (LIM/25), Hospital das Clinicas da Faculdades de Medicina, Universidades de São Paulo, São Paulo, Universidades de São Paulo, São Paulo, Brazil.; Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan, Ann Arbor, MI, US., González-Casado I; Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain.; Department of Pediatric Endocrinology, Hospital Universitario La Paz, Madrid, Spain., Ros-Pérez P; Department of Pediatrics, Hospital Universitario Puerta de Hierro Majadahonda, Majadahonda, Madrid, Spain., Pérez de Nanclares G; Rare Diseases Research Group, Molecular (Epi)Genetics Laboratory, BioAraba Health Research Institute, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Araba, Spain., Jorge AAL; Unidades de Endocrinologia Genetica (LIM/25), Hospital das Clinicas da Faculdades de Medicina, Universidades de São Paulo, São Paulo, Universidades de São Paulo, São Paulo, Brazil.; Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil., Heath KE; Institute of Medical and Molecular Genetics (INGEMM); IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.
Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2020 Aug 01; Vol. 105 (8).
Publication Type: Journal Article; Observational Study; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.
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  Data: <searchLink fieldCode="AU" term="%22Sentchordi-Montané+L%22">Sentchordi-Montané L</searchLink>; Institute of Medical and Molecular Genetics (INGEMM); IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; Department of Pediatrics, Hospital Universitario Infanta Leonor, Madrid, Spain.; Department of Pediatrics, School of Medicine, Complutense University of Madrid, Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Benito-Sanz+S%22">Benito-Sanz S</searchLink>; Institute of Medical and Molecular Genetics (INGEMM); IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Aza-Carmona+M%22">Aza-Carmona M</searchLink>; Institute of Medical and Molecular Genetics (INGEMM); IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Pereda+A%22">Pereda A</searchLink>; Rare Diseases Research Group, Molecular (Epi)Genetics Laboratory, BioAraba Health Research Institute, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Araba, Spain.<br /><searchLink fieldCode="AU" term="%22Parrón-Pajares+M%22">Parrón-Pajares M</searchLink>; Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain.; Department of Radiology, Hospital Universitario La Paz, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22de+la+Torre+C%22">de la Torre C</searchLink>; Institute of Medical and Molecular Genetics (INGEMM); IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Vasques+GA%22">Vasques GA</searchLink>; Unidades de Endocrinologia Genetica (LIM/25), Hospital das Clinicas da Faculdades de Medicina, Universidades de São Paulo, São Paulo, Universidades de São Paulo, São Paulo, Brazil.; Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Funari+MFA%22">Funari MFA</searchLink>; Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Travessa+AM%22">Travessa AM</searchLink>; Serviςo de Genética Médica, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal.<br /><searchLink fieldCode="AU" term="%22Dias+P%22">Dias P</searchLink>; Serviςo de Genética Médica, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal.<br /><searchLink fieldCode="AU" term="%22Suarez-Ortega+L%22">Suarez-Ortega L</searchLink>; Division of Endocrinology, Hospital Sant Joan de Déu, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22González-Buitrago+J%22">González-Buitrago J</searchLink>; Department of Pediatrics. Hospital San Pedro de Alcántara, Cáceres, Spain.<br /><searchLink fieldCode="AU" term="%22Portillo-Najera+NE%22">Portillo-Najera NE</searchLink>; Department of Pediatrics, Hospital Alto Deba, 20500 Arrasate, Guipuzkoa, Spain.<br /><searchLink fieldCode="AU" term="%22Llano-Rivas+I%22">Llano-Rivas I</searchLink>; Osakidetza Basque Health Service, Cruces University Hospital Department of Genetics, Barakaldo, Bizkaia, Spain.<br /><searchLink fieldCode="AU" term="%22Martín-Frías+M%22">Martín-Frías M</searchLink>; Department of Pediatric Endocrinology, Hospital Universitario Ramón y Cajal, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Ramírez-Fernández+J%22">Ramírez-Fernández J</searchLink>; Department of Pediatrics, Hospital Universitario Príncipe de Asturias, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Sánchez+Del+Pozo+J%22">Sánchez Del Pozo J</searchLink>; Department of Pediatric Endocrinology, Hospital Universitario Doce de Octubre, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Garzón-Lorenzo+L%22">Garzón-Lorenzo L</searchLink>; Department of Pediatric Endocrinology, Hospital Universitario Doce de Octubre, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Martos-Moreno+GA%22">Martos-Moreno GA</searchLink>; Department of Endocrinology, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación Sanitaria La Princesa, Madrid, Spain.; Department of Pediatrics, School of Medicine, Universidad Autónoma de Madrid, Madrid, Spain.; CIBEROBN, ISCIII, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Alfaro-Iznaola+C%22">Alfaro-Iznaola C</searchLink>; Department of Pediatrics, Hospital Universitario Rey Juan Carlos, Móstoles, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Mulero-Collantes+I%22">Mulero-Collantes I</searchLink>; Department of Pediatrics, Hospital Universitario Río Hortega, Valladolid, Spain.<br /><searchLink fieldCode="AU" term="%22Ruiz-Ocaña+P%22">Ruiz-Ocaña P</searchLink>; Department of Pediatrics, Hospital Universitario Puerta del Mar, Cádiz, Spain.<br /><searchLink fieldCode="AU" term="%22Casano-Sancho+P%22">Casano-Sancho P</searchLink>; Department of Pediatric Endocrinology, Institut de Recerca Pediàtrica, Hospital Sant Joan de Déu, University of Barcelona, 08950 Espluges de Llobregat, Barcelona, Spain and CIBERDEM, ISCIII, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Portela+A%22">Portela A</searchLink>; Department of Pediatric Endocrinology, Pediatric Unit, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerif, Spain.<br /><searchLink fieldCode="AU" term="%22Ruiz-Pérez+L%22">Ruiz-Pérez L</searchLink>; Department of Pediatric Endocrinology, Hospital General Universitario de Alicante, Alicante, Spain.<br /><searchLink fieldCode="AU" term="%22Del+Pozo+A%22">Del Pozo A</searchLink>; Department of Pediatrics, School of Medicine, Complutense University of Madrid, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Vallespín+E%22">Vallespín E</searchLink>; Department of Pediatrics, School of Medicine, Complutense University of Madrid, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Solís+M%22">Solís M</searchLink>; Department of Pediatrics, School of Medicine, Complutense University of Madrid, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Lerario+AM%22">Lerario AM</searchLink>; Unidades de Endocrinologia Genetica (LIM/25), Hospital das Clinicas da Faculdades de Medicina, Universidades de São Paulo, São Paulo, Universidades de São Paulo, São Paulo, Brazil.; Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan, Ann Arbor, MI, US.<br /><searchLink fieldCode="AU" term="%22González-Casado+I%22">González-Casado I</searchLink>; Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain.; Department of Pediatric Endocrinology, Hospital Universitario La Paz, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Ros-Pérez+P%22">Ros-Pérez P</searchLink>; Department of Pediatrics, Hospital Universitario Puerta de Hierro Majadahonda, Majadahonda, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Pérez+de+Nanclares+G%22">Pérez de Nanclares G</searchLink>; Rare Diseases Research Group, Molecular (Epi)Genetics Laboratory, BioAraba Health Research Institute, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Araba, Spain.<br /><searchLink fieldCode="AU" term="%22Jorge+AAL%22">Jorge AAL</searchLink>; Unidades de Endocrinologia Genetica (LIM/25), Hospital das Clinicas da Faculdades de Medicina, Universidades de São Paulo, São Paulo, Universidades de São Paulo, São Paulo, Brazil.; Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Heath+KE%22">Heath KE</searchLink>; Institute of Medical and Molecular Genetics (INGEMM); IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.
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