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Article

Clinical and genetic spectrum of trichorhinophalangeal syndrome type I/III in 20 children of Korean origin.

European journal of medical genetics - 1 Jul 2026

Park Ayoung, Choi Naye, Cho Tae-Joon, Ko Jung Min

Abstract excerpt

BACKGROUND: Trichorhinophalangeal syndrome type I/III (TRPS I/III) is a rare autosomal dominant skeletal dysplasia caused by pathogenic variants of TRPS1. Although several European cohorts have been reported, data from East Asian populations remain limited and longitudinal growth patterns and treatment responses have not been systematically evaluated. METHODS: We conducted a retrospective single-center study of...

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Identifiers

PMID: 42361898
DOI: 10.1016/j.ejmg.2026.105091

Genes

TRPS1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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