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Article

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

Annals of clinical and laboratory science - 1 Jan 2012

Sohn Young Bae, Ki Chang-Seok, Park Sung Won, Cho Sung-Yoon, Ko Ah-Ra, Kwon Min-Jung, Kim Ji-Youn, Park Hyung-Doo, Kim Ok-Hwa, Jin Dong-Kyu

Abstract excerpt

Tricho-rhino-phalangeal syndrome type I (TRPSI) is a rare autosomal dominant hereditary disorder characterized by sparse hair, bulbous nose, long philtrum, thin upper lip, and skeletal abnormalities including cone-shaped epiphyses, shortening of the phalanges, and short stature. TRPSI is caused b...

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Identifiers

PMID: 22964620

Genes

TRPS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22964620-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency.PMID 22964620Read ↗

A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literatureSemantic proximity Read ↗

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

Clinical, biochemical, and genetic analysis of two Korean patients with Trichorhinophalangeal syndrome type I and growth hormone deficiencySemantic 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 ↗

Clinical and genetic spectrum of trichorhinophalangeal syndrome type I/III in 20 children of Korean origin.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 mutation in TPRS1 gene caused tricho-rhino-phalangeal syndrome in a Chinese patient with severe osteoporosis.Semantic proximity Read ↗

Analysis of novel and recurrent mutations responsible for the 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 ↗

Trichorhinophalangeal syndrome, type I.Semantic proximity Read ↗

Trichorhinophalangeal syndrome type II presenting with short stature in a child.Semantic proximity Read ↗

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