英语词汇“trichohepatoenteric syndrome”的英英意思、用法、释义、翻译、读音、例句、短语、词组-英语词典

单词	trichohepatoenteric syndrome
释义	trichohepatoenteric syndrome trichohepatoenteric syndrome A rare autosonmal recessive condition (OMIM:222470) characterised by intractable diarrhoea with facial dysmorphism, intrauterine growth retardation, immunodeficiency with reduced immunoglobulins, and woolly hair. Molecular pathology Caused by a mutation of SKIV2L on chromosome 6p21, which encodes a helicase with ATPase activity.
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