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Published in 2022 at "Retina"
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:…
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Keywords:
congenital posterior;
posterior polar;
family;
chorioretinal hypoplasia ... See more keywords