trichohepatoenteric syndrome type 2

A syndrome (OMIM:614602) characterised by intrauterine growth retardation; severe diarrhoea in infancy requiring total parenteral nutrition; facial dysmorphism; immunodeficiency; and hair defects (e.g., woolly hair, trichorrhexis nodosa).
Prognosis
Poor, due to hepatic involvement.
Molecular pathology
Defects of SKIV2L, which encodes a DEAD box protein and helicase with ATPase activity, cause trichohepatoenteric syndrome type 2.

单词	trichohepatoenteric syndrome type 2
释义	trichohepatoenteric syndrome type 2 trichohepatoenteric syndrome type 2 A syndrome (OMIM:614602) characterised by intrauterine growth retardation; severe diarrhoea in infancy requiring total parenteral nutrition; facial dysmorphism; immunodeficiency; and hair defects (e.g., woolly hair, trichorrhexis nodosa). Prognosis Poor, due to hepatic involvement. Molecular pathology Defects of SKIV2L, which encodes a DEAD box protein and helicase with ATPase activity, cause trichohepatoenteric syndrome type 2.
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