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
Derivation of iPSC line UMi029-A bearing a hearing-loss associated variant in the SMPX gene.
Dykxhoorn DM et al.
Stem Cell Research, 2021
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
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
A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss.
Niu Z et al.
International Journal of Pediatric Otorhinolaryngology, 2018
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