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Article

Phenotypic Spectrum in Three Romanian Patients with 8q23-q24 Deletions.

International journal of molecular sciences - 27 Jan 2026

Caramizaru Alexandru, Streata Ioana, Pirvu Andrei, Sosoi Simona, Dumitrescu Andreea, Cucu Mihai, Camen Georgiana-Cristiana, Vasile Daniela, Braha Elena, Riza Anca-Lelia, Dobrescu Amelia, Burada Florin

Abstract excerpt

Trichorhinophalangeal syndrome type II (TRPS II) is a rare disease caused by a contiguous gene deletion in the 8q23.3-q24.11 region. Three genes (TRPS1, RAD21, and EXT1) are considered responsible for the most common clinical features, which include facial dysmorphism, ectodermal and skeletal anomalies, osteochondromas, and cognitive impairment. To date, seven patients with 8q23-q24 deletions not involving TRPS1...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41683676
DOI: 10.3390/ijms27031249
PMCID: PMC12898156

Genes

TRPS1
RAD21
EXT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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