Article
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2010
Marini Monica, Bocciardi Renata, Gimelli Stefania, Di Duca Marco, Divizia Maria T, Baban Anwar, Gaspar Harald, Mammi Isabella, Garavelli Livia, Cerone Roberto, Emma Francesco, Bedeschi Maria F, Tenconi Romano, Sensi Alberto, Salmaggi Andrea, Bengala Mario, Mari Francesca, Colussi Gianluca, Szczaluba Krzysztof, Antonarakis Stylianos E, Seri Marco, Lerone Margherita, Ravazzolo Roberto
Abstract excerpt
PURPOSE: Nail-Patella syndrome (MIM 161200) is a rare autosomal dominant disorder characterized by hypoplastic or absent patellae, dystrophic nails, dysplasia of the elbows, and iliac horn. In 40% of cases, a glomerular defect is present and, less frequently, ocular damage is observed. Inter- and intrafamilial variable expressivity of the clinical phenotype is a common finding. Mutations in the human LMX1B gene...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.