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Article

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition.

American journal of medical genetics. Part A - 1 Aug 2026

Helderman Noah C, Tops Carli M, Legebeke Jelmer, Yang Ting, Gay Marcos Díaz, Terlouw Diantha, Lashley Lisa E E L O, Aretz Stefan, Sommer Anna K, Terradas Mariona, Valle Laura, de Voer Richarda M, Alexandrov Ludmil B, Morreau Hans, van Wezel Tom, Nielsen Maartje

Abstract excerpt

The Homologous Recombination Factor With OB-Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8-MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 deficiency. Here, we describe a family where two individuals with biallelic...

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Identifiers

PMID: 41878782
DOI: 10.1002/ajmg.a.70128

Genes

HROB
MCM8
MCM9

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition.PMID 41878782Read ↗

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