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Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene.
Case Rep Genet. 2018 Dec 12;2018:9468049. doi: 10.1155/2018/9468049. eCollection 2018.
Case Rep Genet. 2018.
PMID: 30643655
Free PMC article.
Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families.
Wakil SM, Binamer Y, Al-Dossari H, Al-Humaidy R, Thuraya RA, Khalifa O, Finsterer J, Meyer BF, Al Owain M.
Wakil SM, et al. Among authors: al humaidy r.
Int J Dermatol. 2016 Jun;55(6):673-9. doi: 10.1111/ijd.13279. Epub 2016 Apr 7.
Int J Dermatol. 2016.
PMID: 27061915
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