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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… Click to show full 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 malformations, and diaphragmatic defects. The clinical characteristics of this disorder have not been fully determined because of the rarity of clinical reports.
Keywords:
phenotype stra6;
related disorder;
disorder;
stra6 related;
disorder include;
expanding phenotype
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2020
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2020
Link to full text (if available)
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recommendations!