Article
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.
BMC medical genetics - 2 May 2014
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
Abstract excerpt
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, delayed bone age, hernias, low body mass index and a progeroid appearance. CASE PRESENTATION: In this study, we used...
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