Associated Papers
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.
Yahia A et al.
European Journal of Human Genetics : Ejhg, 2024
37012327 (PubMed )
Supplement: 41431_2023_1344_MOESM2_ESM.pdf
A novel variant in DMXL2 gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family.
Wonkam-Tingang E et al.
Experimental Biology and Medicine (maywood, N.j.), 2021
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.
Esposito A et al.
Brain : a Journal of Neurology, 2019
A dominant variant in DMXL2 is linked to nonsyndromic hearing loss.
Chen DY et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse.
Tata B et al.
Plos Biology, 2014
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