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Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome
We report on a 34-year-old woman and her mother who both have clinical features suggestive for otofaciocervical syndrome (OTFCS), a disorder characterized by a combination of facial dysmorphisms, ear abnormalities with hearing loss, and shoulder girdle anomalies. OTFCS presents overlapping features...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6656857/ https://www.ncbi.nlm.nih.gov/pubmed/31379922 http://dx.doi.org/10.3389/fgene.2019.00650 |