Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43)

Musa FU, Ratajczak P, Sahu J, Pentlicky S, Fryer A, Richard G, Willoughby CE. Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43). Eye (Lond). 2009 Mar;23(3):549-55.