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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...
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| 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 |