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Article

Exclusive paternal origin of new mutations in Apert syndrome.

Nature genetics - 1 May 1996

Moloney D M, Slaney S F, Oldridge M, Wall S A, Sahlin P, Stenman G, Wilkie A O

Abstract excerpt

Apert syndrome results from one or other of two specific nucleotide substitutions, both C-->G transversions, in the fibroblast growth factor receptor 2 (FGFR2) gene. The frequency of new mutations, estimated as 1 per 65,000 live births, implies germline transversion rates at these two positions are currently the highest known in the human genome. Using a novel application of the amplification refractory mutation...

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PMID: 8673103
DOI: 10.1038/ng0596-48

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FGFR2

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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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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Understanding the molecular basis of Apert syndrome.Semantic proximity Read ↗

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