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

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 malformation...

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Detalles Bibliográficos
Autores principales: Sun, Hairui, Yu, Shaomei, Zhou, Xiaoxue, Han, Lu, Zhang, Hongjia, He, Yihua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507429/
https://www.ncbi.nlm.nih.gov/pubmed/32597569
http://dx.doi.org/10.1002/mgg3.1377

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507429/
https://www.ncbi.nlm.nih.gov/pubmed/32597569
http://dx.doi.org/10.1002/mgg3.1377

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