Premature ovarian failure and FMR1 gene mutations: an update.

doi:10.1016/j.ando.2010.02.009

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Article

Premature ovarian failure and FMR1 gene mutations: an update.

Annales d'endocrinologie - 1 May 2010

Conway G S

Abstract excerpt

Screening for fragile X premutations is recommended for the routine work-up for any woman presenting with premature ovarian failure (POF). The reason for this is that women with POF have an approximate 5% chance of conceiving and this possibility may be increased further in the FRAXA premutation subgroup. Women need to be informed if they are at risk of having a child with fragile X syndrome. In addition, the...

Topics

Female
Fragile X Mental Retardation Protein
Fragile X Syndrome
Genetic Testing
Humans
Male
Mutation
Primary Ovarian Insufficiency
Trinucleotide Repeat Expansion

Source

Open in PubMed

Identifiers

PMID: 20398889
DOI: 10.1016/j.ando.2010.02.009

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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