Associated Papers
Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.
Feng H et al.
Orphanet Journal of Rare Diseases, 2024
A novel missense mutation in SMPX causes a rare form of X-linked postlingual sensorineural hearing loss in a Chinese family.
Guo Y et al.
Translational Pediatrics, 2021
Whole-exome sequencing identifies a donor splice-site variant in SMPX that causes rare X-linked congenital deafness.
Lv Y et al.
Molecular Genetics & Genomic Medicine, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Skewed X-chromosome inactivation and next-generation sequencing to identify a novel SMPX variants associated with X-linked hearing loss in a Chinese family.
Gao S et al.
International Journal of Pediatric Otorhinolaryngology, 2018
A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family.
Deng Y et al.
Journal of Human Genetics, 2018
A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss.
Niu Z et al.
International Journal of Pediatric Otorhinolaryngology, 2018
A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family.
Niu Z et al.
Plos One, 2017
A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect.
Abdelfatah N et al.
Human Mutation, 2013
Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.
Schraders M et al.
American Journal of Human Genetics, 2011
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