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Article

Penetrance of fra(X) gene: influence of grandparental origin of the gene, mental status of the carrier mother, and presence of a normal transmitting male.

American journal of medical genetics - 1 Jan 2000

Smits A P, van Oost B A, de Haan A F, Hamel B C, Dreesen J C, Smeets D F

Abstract excerpt

Previous studies have indicated that the fragile X [fra(X)] gene does not show full penetrance (mental impairment) in carrier females or "carrier" males. The phenomenon of non-expressing carrier males distinguishes the fra(X) syndrome from all other known X-linked disorders. Moreover, penetrance of the fra(X) gene apparently does not show random distribution within fra(X) families, but seems to be reduced in sibs...

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PMID: 1605214
DOI: 10.1002/ajmg.1320430157

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NTM

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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