A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.
| Autor: | Youssefian, Leila1,2, Touati, Andrew1,3, Saeidian, Amir Hossein1, Zargari, Omid4, Zeinali, Sirous5,6, Vahidnezhad, Hassan1,5, Uitto, Jouni1 Jouni.Uitto@Jefferson.edu |
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| Zdroj: | Orphanet Journal of Rare Diseases. 12/6/2017, Vol. 12, p1-7. 7p. |
| Databáze: | Academic Search Ultimate |
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