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Article

Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea.

Molecular genetics & genomic medicine - 1 Oct 2021

Sassi Asma, Désir Julie, Duerinckx Sarah, Soblet Julie, Van Dooren Sonia, Bonduelle Maryse, Abramowicz Marc, Delbaere Anne

Abstract excerpt

BACKGROUND: Premature ovarian insufficiency (POI) is a heterogeneous clinical syndrome defined by a premature loss of ovarian function that associates menstrual disturbances and hypergonatropic hypogonadism. POI is a major cause of female infertility affecting 1% of women before the age of 40 and up to 0.01% before the age of 20. The etiology of POI may be iatrogenic, auto-immune or genetic but remains however...

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Identifiers

PMID: 34480423
DOI: 10.1002/mgg3.1776
PMCID: PMC8580073

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea.PMID 34480423Read ↗

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