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Article

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.

European journal of dermatology : EJD - 1 Apr 2018

Torai Ryotaro, Makino Teruhiko, Mizawa Megumi, Shimomura Yutaka, Shimizu Tadamichi

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Identifiers

PMID: 29400302
DOI: 10.1684/ejd.2018.3233

Genes

TRPS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

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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.PMID 29400302Read ↗

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

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

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

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

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

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

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

Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.Semantic proximity Read ↗

Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency.Semantic proximity Read ↗

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