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CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.
Windpassinger C, Piard J, Bonnard C, Alfadhel M, Lim S, Bisteau X, Blouin S, Ali NB, Ng AYJ, Lu H, Tohari S, Talib SZA, van Hul N, Caldez MJ, Van Maldergem L, Yigit G, Kayserili H, Youssef SA, Coppola V, de Bruin A, Tessarollo L, Choi H, Rupp V, Roetzer K, Roschger P, Klaushofer K, Altmüller J, Roy S, Venkatesh B, Ganger R, Grill F, Ben Chehida F, Wollnik B, Altunoglu U, Al Kaissi A, Reversade B, Kaldis P. Windpassinger C, et al. Among authors: klaushofer k. Am J Hum Genet. 2017 Sep 7;101(3):391-403. doi: 10.1016/j.ajhg.2017.08.003. Am J Hum Genet. 2017. PMID: 28886341 Free PMC article.
Extra phenotypic features in a girl with Miller syndrome.
Al Kaissi A, Roetzer KM, Ulz P, Heitzer E, Klaushofer K, Grill F. Al Kaissi A, et al. Among authors: klaushofer k. Clin Dysmorphol. 2011 Apr;20(2):66-72. doi: 10.1097/MCD.0b013e3283416701. Clin Dysmorphol. 2011. PMID: 21346561
Windswept deformity in a patient with Schwartz-Jampel syndrome.
Al Kaissi A, Ganger R, Klaushofer K, Grill F. Al Kaissi A, et al. Among authors: klaushofer k. Swiss Med Wkly. 2012 Mar 19;142:w13519. doi: 10.4414/smw.2012.13519. eCollection 2012. Swiss Med Wkly. 2012. PMID: 22430668 Free article.
361 results