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Article

Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability.

The Journal of clinical investigation - 1 Jan 2015

AlAsiri Saleh, Basit Sulman, Wood-Trageser Michelle A, Yatsenko Svetlana A, Jeffries Elizabeth P, Surti Urvashi, Ketterer Deborah M, Afzal Sibtain, Ramzan Khushnooda, Faiyaz-Ul Haque Muhammad, Jiang Huaiyang, Trakselis Michael A, Rajkovic Aleksandar

Abstract excerpt

Premature ovarian failure (POF) is a genetically and phenotypically heterogeneous disorder that includes individuals with manifestations ranging from primary amenorrhea to loss of menstrual function prior to age 40. POF presents as hypergonadotropic hypogonadism and can be part of a syndrome or occur in isolation. Here, we studied 3 sisters with primary amenorrhea, hypothyroidism, and hypergonadotropic...

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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: 25437880
DOI: 10.1172/JCI78473
PMCID: PMC4382257

Genes

MCM8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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