Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome

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...

Full description

Bibliographic Details
Main Authors: Simone Gana, Angelo Valetto, Benedetta Toschi, Irene Sardelli, Susanna Cappelli, Diego Peroni, Veronica Bertini
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-07-01
Series:Frontiers in Genetics
Subjects:
EYA4
EYA1
otofaciocervical syndrome
6q23 deletion
array CGH
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00650/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2019.00650/full

Similar Items