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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.

European journal of medical genetics - 1 Jun 2024

Herlin Laura Krogh, Herlin Morten Krogh, Blechingberg Jenny, Rønholt Kirsten, Graversen Lise, Schmidt Sigrun A J, Jørgensen Mette Warming, Hellfritzsch Michel Bach, Hald Jannie Dahl, Beck-Nielsen Signe Sparre, Gjørup Hans, Andersen Brian Nauheimer, Gregersen Pernille Axél, Sommerlund Mette

Abstract excerpt

Tricho-rhino-phalangeal syndrome (TRPS) is a rare malformation syndrome characterized by distinctive facial, ectodermal, and skeletal features. TRPS is divided into TRPS type I/III caused by pathogenic variants in TRPS1 and TRPS type II caused by contiguous gene deletions also spanning EXT1 and RAD21. Due to its rarity, knowledge of the clinical course of TRPS remains limited. Therefore, we collected and...

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PMID: 38574886
DOI: 10.1016/j.ejmg.2024.104937

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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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