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Article

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

Journal of human genetics - 1 Jan 2002

Hilton Matthew J, Sawyer Jacob M, Gutiérrez Laura, Hogart Amber, Kung Ting C, Wells Dan E

Abstract excerpt

The tricho-rhino-phalangeal syndromes (TRPS type I, II, and III) are autosomal dominant disorders sharing the following characteristics: slowly growing and sparse scalp hair, medially thick and laterally thin eyebrows, bulbous tip of the nose, long flat philtrum, thin upper lip with vermilion border, and protruding ears. In addition, individuals with TRPS generally share skeletal and bone anomalies, including...

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Source

Identifiers

PMID: 11950061
DOI: 10.1007/s100380200010

Genes

TRPS1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes.PMID 11950061Read ↗

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

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

Deletion of the GATA domain of TRPS1 causes an absence of facial hair and provides new insights into the bone disorder in inherited tricho-rhino-phalangeal syndromes.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 ↗

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How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype.Semantic proximity Read ↗

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