Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis
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DOI: 10.1038/s41436-018-0300-5
Abstract: PurposeTo characterize new molecular factors implicated in a hereditary congenital facial paresis (HCFP) family and otosclerosis.MethodsWe performed exome sequencing in a four-generation family presenting nonprogressive HCFP and mixed hearing loss (HL). MEPE was analyzed using… read more here.
Keywords: variants affecting; family; bone; otosclerosis ... See more keywords