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Article

Molecular diagnosis of Apert syndrome in Chinese patients.

Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi - 1 Jan 2000

Tsai F J, Tsai C H, Peng C T, Lin S P, Hwu W L, Wang T R, Lee C C, Wu J Y

Abstract excerpt

Apert syndrome is a clinically distinct condition characterized by craniosynostosis and severe syndactyly of the hands and the feet. Apert syndrome results from either of two specific nucleotide substitutions, both C-to-G transversions, in the fibroblast growth factor receptor 2 (FGFR2) gene. To determine if Chinese Apert syndrome patients carry the same mutations, fifteen unrelated Apert syndrome patients and a...

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Source

Identifiers

PMID: 10910582

Genes

FGFR2

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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