Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome

Micheal S, Siddiqui SN, Zafar SN, Venselaar H, Qamar R, Khan MI, den Hollander AI. Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome. Neurogenetics. 2015 Oct 21. [Epub ahead of print].