Article
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.
American journal of human genetics - 7 Sept 2017
Windpassinger Christian, Piard Juliette, Bonnard Carine, Alfadhel Majid, Lim Shuhui, Bisteau Xavier, Blouin Stéphane, Ali Nur'Ain B, Ng Alvin Yu Jin, Lu Hao, Tohari Sumanty, Talib S Zakiah A, van Hul Noémi, Caldez Matias J, Van Maldergem Lionel, Yigit Gökhan, Kayserili Hülya, Youssef Sameh A, Coppola Vincenzo, de Bruin Alain, Tessarollo Lino, Choi Hyungwon, Rupp Verena, Roetzer Katharina, Roschger Paul, Klaushofer Klaus, Altmüller Janine, Roy Sudipto, Venkatesh Byrappa, Ganger Rudolf, Grill Franz, Ben Chehida Farid, Wollnik Bernd, Altunoglu Umut, Al Kaissi Ali, Reversade Bruno, Kaldis Philipp
Abstract excerpt
In five separate families, we identified nine individuals affected by a previously unidentified syndrome characterized by growth retardation, spine malformation, facial dysmorphisms, and developmental delays. Using homozygosity mapping, array CGH, and exome sequencing, we uncovered bi-allelic loss-of-function CDK10 mutations segregating with this disease. CDK10 is a protein kinase that partners with cyclin M to...
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