单词 | autosomal recessive ichthyosis with hypotrichosis |
释义 | autosomal recessive ichthyosis with hypotrichosisautosomal recessive ichthyosis with hypotrichosisAn autosomal recessive condition (OMIM:610765) characterised by ichthyosis and generalised hypotrichosis with diffuse scaling. It is caused by a mutation of ST14, the gene which encodes type-II transmembrane serine protease matriptase. |
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