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Article

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

American journal of medical genetics. Part A - 1 Aug 2009

Piccione Maria, Niceta Marcello, Antona Vincenzo, Di Fiore Antonella, Cariola Filomena, Gentile Mattia, Corsello Giovanni

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PMID: 19610100
DOI: 10.1002/ajmg.a.32952

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Identification of two new mutations in TRPS 1 gene leading to the tricho-rhino-phalangeal syndrome type I and III.PMID 19610100Read ↗

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 ↗

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 ↗

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

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

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

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

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

Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.Semantic proximity Read ↗

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

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