Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome
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DOI: 10.3389/fgene.2019.00650
Abstract: 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… read more here.
Keywords: familial interstitial; 6q23 deletion; deletion; otofaciocervical syndrome ... See more keywords