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Article

A Novel Phenotype Combining Primary Ovarian Insufficiency Growth Retardation and Pilomatricomas With MCM8 Mutation.

The Journal of clinical endocrinology and metabolism - 1 Jun 2020

Heddar Abdelkader, Beckers Dominique, Fouquet Baptiste, Roland Dominique, Misrahi Micheline

Abstract excerpt

CONTEXT: Primary Ovarian insufficiency (POI) affects 1% of women aged <40 years and leads most often to definitive infertility with adverse health outcomes. Very recently, genes involved in deoxyribonucleic acid (DNA) repair have been shown to cause POI. OBJECTIVE: To identify the cause of a familial POI in a consanguineous Turkish family. DESIGN: Exome sequencing was performed in the proposita and her mother....

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PMID: 32242235
DOI: 10.1210/clinem/dgaa155

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A Novel Phenotype Combining Primary Ovarian Insufficiency Growth Retardation and Pilomatricomas With MCM8 Mutation.PMID 32242235Read ↗

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Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure.Semantic proximity Read ↗

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