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Article

An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I.

Cold Spring Harbor molecular case studies - 1 Dec 2019

Zepeda-Mendoza Cinthya J, Cousin Margot A, Basu Shubham, Jenkinson Garrett, Oliver Gavin, Pittock Siobhan T, Baughn Linda B, Klee Eric W, Babovic-Vuksanovic Dusica

Abstract excerpt

Trichorhinophalangeal syndrome type I (TRPSI) is a rare disorder that causes distinctive ectodermal, facial, and skeletal features affecting the hair (tricho-), nose (rhino-), and fingers and toes (phalangeal) and is inherited in an autosomal dominant pattern. TRPSI is caused by loss of function variants in TRPS1, involved in the regulation of chondrocyte and perichondrium development. Pathogenic variants in...

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PMID: 31662300
DOI: 10.1101/mcs.a004655
PMCID: PMC6913153

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An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I.PMID 31662300Read ↗

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