p.Tyr250Asp c.748T>G (NM_001355186.2) homozygous missense mutation in a10 year old boy was presented with diffuse erythema and fine scaling of the body, mimicking autosomal congenital recessive ichthyosis
Kinetic parameters
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References:
Title: Chanarin-Dorfman syndrome: a novel homozygous mutation in the ABHD5 gene Al-Hage J, Abbas O, Nemer G, Kurban M Ref: Clinical & Experimental Dermatologyatol, 45:257, 2020 : PubMed