Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia

Brady PD, Van Esch H, Fieremans N, Froyen G, Slavotinek A, Deprest J, Devriendt K, Vermeesch JR. Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia. Eur J Hum Genet. 2014 Jul 16.  [Epub ahead of print] PubMed PMID: 25026905.

PubMed ID: 
25026905