Whole‐exome sequencing identifies a donor splice‐site variant in SMPX that causes rare X‐linked congenital deafness
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DOI: 10.1002/mgg3.967
Abstract: X‐linked deafness‐4 (DFNX4) caused by functional loss of SMPX is a nonsyndromic form of progressive hearing loss with post‐lingual onset. Herein, we describe a male neonate from an ethnic Han Chinese family who presented with… read more here.
Keywords: congenital deafness; identifies donor; exome sequencing; donor splice ... See more keywords