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Article

A novel mutation in TPRS1 gene caused tricho-rhino-phalangeal syndrome in a Chinese patient with severe osteoporosis.

Chinese medical journal - 1 May 2011

Shao Cong, Tian Jun, Shi Dong-Hong, Yu Chun-Xiao, Xu Chao, Wang Lai-Cheng, Gao Ling, Zhao Jia-Jun

Abstract excerpt

Tricho-rhino-phalangeal syndrome (TRPS) was first reported in 1966. Although mutation of TRPS1 gene is considered to be responsible for the syndromes in 2000, investigation of bone metabolism and changes of serum insulin-like growth factor (IGF)-1 level in this kind of patients is rare. Here, we report a patient with TRPS I (MIM 190350) presenting a novel mutation (1096insA) and abnormal changes of severe...

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Source

Identifiers

PMID: 21740822

Genes

TRPS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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