POC1A

Publications

Shaheen R et al. POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. Am J Hum Genet. 2012;91(2):330–336. PMID: 22840364.

Sarig O et al. Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. Am J Hum Genet. 2012;91(2):337–342. PMID: 22840363.

Koparir A et al. Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis. Hum Mol Genet. 2015;24(19):5378–5387. PMID: 26162852.

Barraza‐García J et al. Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: clinical homogeneity but also unreported malformations. AmJ Med Genet A. 2016;170A(1):210–216. PMID: 26374189.

Chen J et al. Truncation of POC1A associated with short stature and extreme insulin resistance. J Mol Endocrinol. 2015;55(2):147–158. PMID: 26336158.

Anazi S et al. Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. Mol Psychiatry. 2017;22(4):615–624. PMID: 27431290.