Two novel POC1A mutations in the primordial dwarfism,SOFT syndrome: Clinical homogeneity but also unreported malformations期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Two novel POC1A mutations in the primordial dwarfism,SOFT syndrome: Clinical homogeneity but also unreported malformations

Authors:	Jimena Barraza‐García Carlos Iván Rivera‐Pedroza Luis Salamanca Alberta Belinchón Vanesa López‐González Lucía Sentchordi‐Montané Ángela del Pozo Fernando Santos‐Simarro Ángel Campos‐Barros Pablo Lapunzina Encarna Guillén‐Navarro Isabel González‐Casado Sixto García‐Miñaur Karen E. Heath

Affiliation:	1. Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain;2. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto Carlos III, Madrid, Spain;3. Multidisciplinary Skeletal Dysplasia Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain;4. Department of Pediatric Endocrinology, Hospital Universitario La Paz, Universidad Autónoma de Madrid, Spain;5. Department of Pediatrics, Medical Genetics Section, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB‐Arrixaca, Murcia, Spain;6. Department of Pediatric Endocrinology, Hospital Universitario Infanta Leonor, Madrid, Spain;7. Cátedra de Genética Médica, UCAM‐Universidad Católica San Antonio de Murcia, Spain;8. Correspondence to:;9. Karen Heath, Ph.D., Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, P° Castellana 261, 28046 Madrid, Spain.;10. E‐mail:

Abstract:

Keywords:	centriole POC1A primordial dwarfism skeletal dysplasia SOFT syndrome

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