PMC Links for OMIM (Select 614783) - PMC

Result Filters

Links from OMIM

Items: 3

Select item 34155541.

Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation

Ofer Sarig, Sagi Nahum, Debora Rapaport, Akemi Ishida-Yamamoto, Dana Fuchs-Telem, Li Qiaoli, Ksenya Cohen-Katsenelson, Ronen Spiegel, Janna Nousbeck, Shirli Israeli, Zvi-Uri Borochowitz, Gilly Padalon-Brauch, Jouni Uitto, Mia Horowitz, Stavit Shalev, Eli Sprecher

Am J Hum Genet. 2012 Aug 10; 91(2): 337–342. doi: 10.1016/j.ajhg.2012.06.003

PMCID:: PMC3415554

Abstract Article PDF–1008K

Select item 34155492.

POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism

Ranad Shaheen, Eissa Faqeih, Hanan E. Shamseldin, Ramil R. Noche, Asma Sunker, Muneera J. Alshammari, Tarfa Al-Sheddi, Nouran Adly, Mohammed S. Al-Dosari, Sean G. Megason, Muneera Al-Husain, Futwan Al-Mohanna, Fowzan S. Alkuraya

Am J Hum Genet. 2012 Aug 10; 91(2): 330–336. doi: 10.1016/j.ajhg.2012.05.025