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Article

S252W mutation in Indian patients of Apert syndrome.

Indian pediatrics - 1 Aug 2006

Girisha K M, Phadke Shubha R, Khan Faisal, Agrawal Suraksha

Abstract excerpt

Two common mutations in the exon IIIa of fibroblast growth factor receptor 2 account for majority of the cases of Apert syndrome. They can be analyzed by amplifying the segment followed by testing for the abolition of restriction sites. We evaluated two children with typical features of Apert syndrome. A segment of FGFR2 exon IIIa was amplified by polymerase chain reaction. Restriction fragment length...

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Source

Identifiers

PMID: 16951439

Genes

FGFR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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