Expanding the phenotype of STRA6‐related disorder to include left ventricular non‐compaction
Abstract 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 malf...
| 主要な著者: | , , , , , |
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| フォーマット: | 論文 |
| 言語: | English |
| 出版事項: |
Wiley
2020-09-01
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| シリーズ: | Molecular Genetics & Genomic Medicine |
| 主題: | |
| オンライン･アクセス: | https://doi.org/10.1002/mgg3.1377 |