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Article

Trichorhinophalangeal syndrome: Report of a novel familial TRPS1 mutation.

Clinical dysmorphology - 1 Apr 2010

Al-Dosari Mohammed S, Alkuraya Fowzan S

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Source

Identifiers

PMID: 20177376
DOI: 10.1097/MCD.0b013e3283379ae6

Genes

TRPS1

Provenance

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

Related research

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Trichorhinophalangeal syndrome: Report of a novel familial TRPS1 mutation.PMID 20177376Read ↗

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 ↗

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 ↗

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 ↗

Trichorhinophalangeal syndrome type I: a novel mutation and Perthes-like changes of the hip in a family with 4 cases over 3 generations.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 ↗

Trichorhinophalangeal syndrome, type I.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 ↗

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

New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene.Semantic proximity Read ↗

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