CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays

Autor: Sudipto Roy, Noémi van Hul, Janine Altmüller, Hyungwon Choi, Nur'Ain Binte Ali, Xavier Bisteau, Shuhui Lim, Christian Windpassinger, Stéphane Blouin, Verena Rupp, Carine Bonnard, Franz Grill, Byrappa Venkatesh, Bruno Reversade, Rudolf Ganger, Vincenzo Coppola, S. Zakiah A. Talib, Klaus Klaushofer, Majid Alfadhel, Gökhan Yigit, Farid Ben Chehida, Paul Roschger, Ali Al Kaissi, Matias J. Caldez, Umut Altunoglu, Bernd Wollnik, Hülya Kayserili, Lionel Van Maldergem, Alvin Yu Jin Ng, Sameh A. Youssef, Lino Tessarollo, Katharina M. Roetzer, Hao Lu, Philipp Kaldis, Juliette Piard, Alain de Bruin, Sumanty Tohari

Publikováno v: American Journal of Human Genetics
American journal of human genetics, 101(3), 391-403. Cell Press
American Journal of Human Genetics, 101(3), 391. Cell Press

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, an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f40dd9590bfaaffdcbe2fe81c6b9ab32
https://doi.org/10.1016/j.ajhg.2017.08.003