Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.
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
Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.
D'Aguillo C et al.
International Journal of Audiology, 2019
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
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
Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family.
Weegerink NJ et al.
Hearing Research, 2011
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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