Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Trichohepatoenteric syndrome type 1: expanding the clinical spectrum of THES type 1 due to a homozygous variant in the SKIC3 gene.

BMC pediatrics - 10 Jul 2024

Alrammal Abdullah, Aljundi Rashed, Abu Ghedda Sedra, AlMurbati Buthaina Mustafa

Abstract excerpt

Trichohepatoenteric syndrome (THES), also known as phenotypic diarrhea or syndromic diarrhea, is a rare autosomal recessive genetic disorder caused by mutations in SKIC2 (THES-type 2) or SKIC3 (THES-type 1) and is characterized by early onset diarrhea, woolly brittle hair, facial dysmorphic features and liver disease. We report the case of a 24-month-old girl who presented with chronic diarrhea since the neonatal...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Diarrhea
Share to Diarrhea, Infantile

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Helicases

Share to Exome Sequencing

Share to Facies

Share to Fetal Growth Retardation

Share to Hair Diseases

Share to Liver Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 38987716
DOI: 10.1186/s12887-024-04924-7
PMCID: PMC11234776

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Trichohepatoenteric syndrome type 1: expanding the clinical spectrum of THES type 1 due to a homozygous variant in the SKIC3 gene.PMID 38987716Read ↗

Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families.Semantic proximity Read ↗

Expanding the clinical spectrum in trichohepatoenteric syndrome.Semantic proximity Read ↗

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

Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.Semantic proximity Read ↗

Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).Semantic proximity Read ↗

SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.Semantic proximity Read ↗

Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome.Semantic proximity Read ↗

Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa.Semantic proximity Read ↗

Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome.Semantic proximity Read ↗

Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome.Semantic proximity Read ↗

Syndromic (phenotypic) diarrhea in early infancy.Semantic proximity Read ↗

Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric SyndromeSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.