A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3–4

BACKGROUND: Myhre syndrome is a rare multisystem genetic disorder that is caused by de novo heterozygous gain‐of‐function variants in SMAD4. Patients with Myhre syndrome exhibit several phenotypes at different ages such as small size, autism, developmental delay, left‐sided heart defects, and hearin...

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Detalles Bibliográficos
Autores principales: Yang, Kun, Wang, Xi, Wang, Wei‐Qian, Han, Ming‐Yu, Hu, Li‐Min, Kang, Dong‐Yang, Yang, Jin‐Yuan, Liu, Min, Gao, Xue, Yuan, Yong‐Yi, Xu, Jin‐Cao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10009913/
https://www.ncbi.nlm.nih.gov/pubmed/36373990
http://dx.doi.org/10.1002/mgg3.2103

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10009913/
https://www.ncbi.nlm.nih.gov/pubmed/36373990
http://dx.doi.org/10.1002/mgg3.2103

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