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

Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome

30 Jan 2015

Abstract excerpt

Unbiased genetic diagnosis has increasingly associated seemingly unrelated somatic and immunological phenotypes. We report a male infant who presented within the first year of life with physical growth impairment, feeding difficulties, hyperemesis without diarrhea, and abnormal hair findings suggestive of trichorrhexis nodosa. With advancing age, moderate global developmental delay, susceptibility to frequent...

Read the complete abstract on PubMed

Topics

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

Share to Immunodeficiency and Autoimmune Disorders
Share to Parvovirus B19 Infection Studies
Share to Viral gastroenteritis research and epidemiology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 25688341
DOI: 10.3389/fped.2015.00002

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric SyndromePMID 25688341Read ↗

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 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 ↗

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

Hyper IgM in tricho-hepato-enteric syndrome due to TTC37 mutation.Semantic proximity Read ↗

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

Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome.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 ↗

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

Hidden Aberrant Transcripts in TTC37 Cause Trichohepatoenteric Syndrome.Semantic proximity Read ↗

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

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