CONGENITAL POSTERIOR POLAR CHORIORETINAL HYPOPLASIA
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DOI: 10.1097/iae.0000000000003611
Abstract: We describe the clinical and genetic findings of PRDM13-related disorder in an Egyptian family associated with a heterozygous mutation affecting the PRDM13 gene, giving definition to a new disease, congenital posterior polar chorioretinal hypoplasia. Purpose:… read more here.
Keywords: congenital posterior; posterior polar; family; chorioretinal hypoplasia ... See more keywords