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Article

A novel COMP mutation in a Chinese patient with pseudoachondroplasia.

Gene - 10 Jun 2013

Xie Xuemei, Liao Lihong, Gao Jinzhi, Luo Xiaoping

Abstract excerpt

A 2.75-year-old Chinese boy presented with typical clinical features of pseudoachondroplasia, including disproportionate short-limb short stature, brachydactyly, genu varus and waddling gait. Radiologically, tubular bones were short with widened metaphyses, irregular and small epiphyses; anterior tonguing or beaking of vertebral bodies were characteristic. DNA sequencing analysis of the COMP gene revealed a...

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Source

Identifiers

PMID: 23562786
DOI: 10.1016/j.gene.2013.02.056

Genes

COMP

Variants

Provenance

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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