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Article

Expanding the clinical spectrum in trichohepatoenteric syndrome.

American journal of medical genetics. Part A - 1 Oct 2021

Dorum Sevil, Gorukmez Ozlem

Abstract excerpt

Trichohepatoenteric syndrome (THES) is a very rare autosomal recessive genetic disorder, which is characterized by intractable diarrhea during infancy, dysmorphic features, immunodeficiency, and a failure to thrive. There are still significant difficulties for patients and clinicians in terms of the management of THES, even though its molecular basis has been uncovered in the last decade. In this article, we have...

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Identifiers

PMID: 34037310
DOI: 10.1002/ajmg.a.62354

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Expanding the clinical spectrum in trichohepatoenteric syndrome.PMID 34037310Read ↗

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