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Article

Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature.

European journal of pediatrics - 1 Oct 2015

Chong Jin Ho, Jamuar Saumya Shekhar, Ong Christina, Thoon Koh Cheng, Tan Ee Shien, Lai Angeline, Aan Mark Koh Jean, Tan Wilson Lek Wen, Foo Roger, Tan Ene Choo, Lau Yu-Lung, Liew Woei Kang

Abstract excerpt

UNLABELLED: Tricho-hepato-enteric syndrome (THE-S) is characterized by severe infantile diarrhea, failure to thrive, dysmorphism, woolly hair, and immune or hepatic dysfunction. We report two cases of East Asian descent with THE-S who had remained undiagnosed despite extensive investigations but were diagnosed on whole exome sequencing (WES). Both cases presented with chronic diarrhea, failure to thrive, and...

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PMID: 25976726
DOI: 10.1007/s00431-015-2563-z

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