Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome

BACKGROUND: SHORT syndrome is a rare autosomal dominant condition whose name is the acronym of short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay (MIM 269880). Additionally, the patients usually present a low birth weight and height, lipodystrophy, dela...

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Detalles Bibliográficos
Autores principales: Bárcena, Clea, Quesada, Víctor, De Sandre-Giovannoli, Annachiara, Puente, Diana A, Fernández-Toral, Joaquín, Sigaudy, Sabine, Baban, Anwar, Lévy, Nicolas, Velasco, Gloria, López-Otín, Carlos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4022398/
https://www.ncbi.nlm.nih.gov/pubmed/24886349
http://dx.doi.org/10.1186/1471-2350-15-51

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