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Article

Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression.

Human genetics - 1 Nov 2013

David Dezső, Marques Bárbara, Ferreira Cristina, Araújo Carlos, Vieira Luís, Soares Gabriela, Dias Cristina, Pinto Maximina

Abstract excerpt

Trichorhinophalangeal syndrome type I (TRPS I) is a rare autosomal dominant syndrome caused by haploinsufficiency of TRPS1 due to point mutations or deletions. Here, we report the first familial TRPS I due to a t(8;13)(q23.3;q21.31) translocation breakpoint <100 kb from the 5' end of TRPS1. Based on the additional abnormalities observed exclusively in the index patient that are mainly compatible with clinical...

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Source

Identifiers

PMID: 23835950
DOI: 10.1007/s00439-013-1333-0

Genes

TRPS1
PCDH20
PCDH9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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