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Article

MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability.

American journal of human genetics - 4 Dec 2014

Wood-Trageser Michelle A, Gurbuz Fatih, Yatsenko Svetlana A, Jeffries Elizabeth P, Kotan L Damla, Surti Urvashi, Ketterer Deborah M, Matic Jelena, Chipkin Jacqueline, Jiang Huaiyang, Trakselis Michael A, Topaloglu A Kemal, Rajkovic Aleksandar

Abstract excerpt

Premature ovarian failure (POF) is genetically heterogeneous and manifests as hypergonadotropic hypogonadism either as part of a syndrome or in isolation. We studied two unrelated consanguineous families with daughters exhibiting primary amenorrhea, short stature, and a 46,XX karyotype. A combination of SNP arrays, comparative genomic hybridization arrays, and whole-exome sequencing analyses identified homozygous...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25480036
DOI: 10.1016/j.ajhg.2014.11.002
PMCID: PMC4259971

Genes

MCM9

Variants

Provenance

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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