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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… Click to show full 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 congenital deafness.
Keywords:
congenital deafness;
identifies donor;
exome sequencing;
donor splice;
sequencing identifies;
whole exome
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2019
Link to full text (if available)
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2019
Link to full text (if available)
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recommendations!