Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome.

Takeichi T, Sugiura K, Tso S, Simpson MA, McGrath JA, Akiyama M. Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome. J Dermatol Sci. 2016 Feb; 81(2):134-6.

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