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

A novel missense mutation in the TRPS1 gene underlies trichorhinophalangeal syndrome type III.

The British journal of dermatology - 1 Aug 2008

Tariq M, Ahmad S, Ahmad W

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Base Sequence
Share to DNA-Binding Proteins
Share to Mutation, Missense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pedigree

Share to Phenotype

Share to Repressor Proteins

Share to Transcription Factors

Source

Identifiers

PMID: 18544079
DOI: 10.1111/j.1365-2133.2008.08658.x

Genes

TRPS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel missense mutation in the TRPS1 gene underlies trichorhinophalangeal syndrome type III.PMID 18544079Read ↗

Trichorhinophalangeal syndrome: Report of a novel familial TRPS1 mutation.Semantic proximity Read ↗

A novel missense mutation in exon 3 of the TRPS1 gene in a patient with a mild phenotype of tricho-rhino-phalangeal syndrome type 1.Semantic proximity Read ↗

TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability.Semantic proximity Read ↗

Identification of a new mutation in TRPS1 gene leading to tricho-rhino-phalangeal syndrome I in a Chinese patient.Semantic proximity Read ↗

Identification of two new mutations in TRPS 1 gene leading to the tricho-rhino-phalangeal syndrome type I and III.Semantic proximity Read ↗

Tricho-rhino-phalangeal type I syndrome and mental retardation: identification of a novel mutation in the TRPS1 gene.Semantic proximity Read ↗

Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants.Semantic proximity Read ↗

TRPS1 mutation detection in Chinese patients with Tricho-rhino-phalangeal syndrome and identification of four novel mutations.Semantic proximity Read ↗

An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I.Semantic proximity Read ↗

[Tricho-rhino-phalangeal syndrome with TRPS1 gene variation in 3 children].Semantic proximity Read ↗

TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology.Semantic proximity Read ↗

Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes.Semantic proximity Read ↗

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