A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.

Youssefian L, Touati A, Saeidian AH, Zargari O, Zeinali S, Vahidnezhad H, Uitto J. A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome. Orphanet J Rare Dis. 2017 Dec 06; 12(1):176.

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