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Article

Expanding the phenotype of STRA6-related disorder to include left ventricular non-compaction.

Molecular genetics & genomic medicine - 1 Sept 2020

Sun Hairui, Yu Shaomei, Zhou Xiaoxue, Han Lu, Zhang Hongjia, He Yihua

Abstract excerpt

BACKGROUND: 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 malformations, and diaphragmatic defects. The clinical characteristics of this disorder have not been fully determined because...

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PMID: 32597569
DOI: 10.1002/mgg3.1377
PMCID: PMC7507429

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