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Article

Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome.

Journal of pediatric gastroenterology and nutrition - 1 Mar 2015

Monies Dorota M, Rahbeeni Zuhair, Abouelhoda Mohamed, Naim Ewa A, Al-Younes Banan, Meyer Brian F, Al-Mehaidib Ali

Abstract excerpt

Molecular genetics studies are of increasing importance in the diagnosis and classification of congenital diarrheal disorders. We describe the molecular genetic basis of tricho-hepato-enteric syndrome in patients from Saudi Arabia with novel mutations of SKIV2L (c.3559_3579del, p.1187_1193del) and TTC37 (C4102T, p.Q1368X). Interestingly, the congenital presence of café-au-lait spots and their distribution in the...

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PMID: 25714577
DOI: 10.1097/MPG.0000000000000627

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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Intractable diarrhea with "phenotypic anomalies" and tricho-hepato-enteric syndrome: two names for the same disorder.Semantic proximity Read ↗

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