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Two novel heterozygous exonic deletions lead to Chanarin-Dorfman syndrome in a patient with congenital ichthyosis, sensorineural hearing loss, and liver dysfunction.
Am J Med Genet A. 2024 Apr;194(4):e63481. doi: 10.1002/ajmg.a.63481. Epub 2023 Nov 20.
Am J Med Genet A. 2024.
PMID: 37984424
Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss.
Diaz-Horta O, Bademci G, Tokgoz-Yilmaz S, Guo S, Zafeer F, Sineni CJ, Duman D, Farooq A, Tekin M.
Diaz-Horta O, et al. Among authors: zafeer f.
Clin Genet. 2019 Dec;96(6):575-578. doi: 10.1111/cge.13626. Epub 2019 Aug 27.
Clin Genet. 2019.
PMID: 31432506
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