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Article

The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect.

Proceedings of the National Academy of Sciences of the United States of America - 12 Nov 2002

Tiemann-Boege Irene, Navidi William, Grewal Raji, Cohn Dan, Eskenazi Brenda, Wyrobek Andrew J, Arnheim Norman

Abstract excerpt

The lifelong spermatogonial stem cell divisions unique to male germ cell production are thought to contribute to a higher mutation frequency in males. The fact that certain de novo human genetic conditions (e.g., achondroplasia) increase in incidence with the age of the father is consistent with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 12397172
DOI: 10.1073/pnas.232568699
PMCID: PMC137526

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-12397172-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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