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Article

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

Clinical dysmorphology - 1 Apr 2012

Sidler Jan A, Filges Isabel, Boesch Nemya, Ramelli Gian Paolo, Röthlisberger Benno, Huber Andreas R, Tercanli Sevgi, Bronz Lucio, Miny Peter, Heinimann Karl

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Identifiers

PMID: 22127049
DOI: 10.1097/MCD.0b013e32834e9248

Genes

TRPS1

Provenance

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Related research

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TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability.PMID 22127049Read ↗

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

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 ↗

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 ↗

Phenotypic Spectrum in Three Romanian Patients with 8q23-q24 Deletions.Semantic proximity Read ↗

A novel homozygous frameshift mutation in the TUSC3 gene identified in siblings with intellectual disability.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 ↗

A novel mutation in TPRS1 gene caused tricho-rhino-phalangeal syndrome in a Chinese patient with severe osteoporosis.Semantic proximity Read ↗

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