Expanding the phenotype of STRA6‐related disorder to include left ventricular non‐compaction
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DOI: 10.1002/mgg3.1377
Abstract: Syndromic microphthalmia‐9 (MCOPS9) is a rare autosomal recessive disorder caused by mutations in STRA6, an important regulator of vitamin A and retinoic acid metabolism. This disorder is characterized by bilateral clinical anophthalmia, pulmonary hypoplasia/aplasia, cardiac… read more here.
Keywords: phenotype stra6; related disorder; disorder; stra6 related ... See more keywords