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Article

New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing.

Human reproduction (Oxford, England) - 1 Jul 2017

Patiño Liliana Catherine, Beau Isabelle, Carlosama Carolina, Buitrago July Constanza, González Ronald, Suárez Carlos Fernando, Patarroyo Manuel Alfonso, Delemer Brigitte, Young Jacques, Binart Nadine, Laissue Paul

Abstract excerpt

STUDY QUESTION: Is it possible to identify new mutations potentially associated with non-syndromic primary ovarian insufficiency (POI) via whole-exome sequencing (WES)? SUMMARY ANSWER: WES is an efficient tool to study genetic causes of POI as we have identified new mutations, some of which lead to protein destablization potentially contributing to the disease etiology. WHAT IS KNOWN ALREADY: POI is a frequently...

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Share to Bone Morphogenetic Protein Receptors, Type I
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 28505269
DOI: 10.1093/humrep/dex089

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GREM1

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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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