Associated Papers
Novel mutation of SMPX-related scapuloperoneal myopathy and myofibrillar myopathy.
Li Z et al.
Acta Neuropathologica, 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
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
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