SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management
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DOI: 10.3390/genes13122192
Abstract: SLC26A4 is one of the most common genes causing autosomal recessive non-syndromic sensorineural hearing loss (SNHL). It has been reported to cause Pendred Syndrome (PDS) and DFNB4 which is deafness with enlarged vestibular aqueduct (EVA).… read more here.
Keywords: slc26a4; diagnosis; variability; management ... See more keywords