Article
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.
American journal of human genetics - 10 Feb 2012
Simpson Michael A, Deshpande Charu, Dafou Dimitra, Vissers Lisenka E L M, Woollard Wesley J, Holder Susan E, Gillessen-Kaesbach Gabriele, Derks Ronny, White Susan M, Cohen-Snuijf Ruthy, Kant Sarina G, Hoefsloot Lies H, Reardon Willie, Brunner Han G, Bongers Ernie M H F, Trembath Richard C
Abstract excerpt
Genitopatellar syndrome (GPS) is a rare disorder in which patellar aplasia or hypoplasia is associated with external genital anomalies and severe intellectual disability. Using an exome-sequencing approach, we identified de novo mutations of KAT6B in five individuals with GPS; a single nonsense v...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.