Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation.
Sarig O, Nahum S, Rapaport D, Ishida-Yamamoto A, Fuchs-Telem D, Qiaoli L, Cohen-Katsenelson K, Spiegel R, Nousbeck J, Israeli S, Borochowitz ZU, Padalon-Brauch G, Uitto J, Horowitz M, Shalev S, Sprecher E.
Sarig O, et al. Among authors: cohen katsenelson k.
Am J Hum Genet. 2012 Aug 10;91(2):337-42. doi: 10.1016/j.ajhg.2012.06.003. Epub 2012 Jul 26.
Am J Hum Genet. 2012.
PMID: 22840363
Free PMC article.