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...

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Detalles Bibliográficos
Autores principales: Gana, Simone, Valetto, Angelo, Toschi, Benedetta, Sardelli, Irene, Cappelli, Susanna, Peroni, Diego, Bertini, Veronica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
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

Internet

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

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