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Article

Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations.

BMC medical genetics - 9 Jul 2018

Beke Artur, Piko Henriett, Haltrich Iren, Karcagi Veronika, Rigo Janos, Molnar Maria Judit, Fekete György

Abstract excerpt

BACKGROUND: Premature ovarian failure / primary ovarian insufficiency (POF/POI) associated with the mutations of the FMR1 (Fragile-X Mental Retardation 1) gene belongs to the group of the so-called trinucleotide expansion diseases. Our aim was to analyse the relationship between the paternally inherited premutation (PIP) and the maternally inherited premutation (MIP) by the examination of the family members of...

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Source

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Identifiers

PMID: 29986653
DOI: 10.1186/s12881-018-0634-5
PMCID: PMC6038184

Genes

FMR1
MIP
PIP

Provenance

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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