Article
Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4.
American journal of medical genetics. Part A - 15 Jul 2006
Abdul-Rahman Omar A, La Trang H, Kwan Andrea, Schlaubitz Silke, Barsh Greg S, Enns Gregory M, Hudgins Louanne
Abstract excerpt
Genitopatellar syndrome is a newly described disorder characterized by absent/hypoplastic patellae, lower extremity contractures, urogenital anomalies, dysmorphic features, skeletal anomalies, and agenesis of the corpus callosum. More recently, cardiac anomalies and ectodermal dysplasia have been suggested as additional features of this syndrome. We report on two additional patients with genitopatellar syndrome...
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