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Article

Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation.

Endocrine journal - 28 May 2021

Masunaga Yohei, Mochizuki Mie, Kadoya Machiko, Wada Yoshinao, Okamoto Nobuhiko, Fukami Maki, Kato Fumiko, Saitsu Hirotomo, Ogata Tsutomu

Abstract excerpt

Primary ovarian insufficiency (POI) is a highly heterogeneous condition, and its underlying causes remain to be clarified in a large fraction of patients. Congenital disorders of glycosylation (CDG) are multisystem diseases caused by mutations of a number of genes involved in N-glycosylation or O-glycosylation, and the most frequent form is PMM2-CDG (alias, CDG-Ia) resulting from biallelic mutations in PMM2...

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PMID: 33583911
DOI: 10.1507/endocrj.EJ20-0706

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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