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

Tricho-Hepato-Eenteric Syndrome: Same Genotype but Different Phenotypes in Two Pakistani Children.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP - 1 Feb 2022

Waheed Nadia, Saeed Anjum, Cheema Huma Arshad

Abstract excerpt

Tricho-hepato-enteric syndrome (THES) is characterised by infantile diarrhea with characteristic facies, trichorrhexis nodosa and hepatic involvement. The underlying genetic mutation is in tetratricopeptide repeat domain 37 (TTC37) gene. It is a very rare syndrome and only 44 cases have been reported so far in the medical literature. We recently diagnosed two children with THES on genetic analysis, who had same...

Read the complete abstract on PubMed

Topics

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

Share to Diarrhea, Infantile
Share to Genotype
Share to Hair Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Pakistan

Share to Phenotype

Source

Identifiers

PMID: 35108801
DOI: 10.29271/jcpsp.2022.02.242

Provenance

PubMed metadata and Literature Corpus relationships.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Tricho-Hepato-Eenteric Syndrome: Same Genotype but Different Phenotypes in Two Pakistani Children.PMID 35108801Read ↗

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

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

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

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

Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease.Semantic proximity Read ↗

Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency.Semantic proximity Read ↗

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

Trichohepatoenteric Syndrome Presenting with Severe Infection and Later Onset Diarrhoea.Semantic proximity Read ↗

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

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

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

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

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