Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights.

doi:10.1210/clinem/dgac528

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Article

Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights.

The Journal of clinical endocrinology and metabolism - 25 Nov 2022

Tucker Elena J, Baker Megan J, Hock Daniella H, Warren Julia T, Jaillard Sylvie, Bell Katrina M, Sreenivasan Rajini, Bakhshalizadeh Shabnam, Hanna Chloe A, Caruana Nikeisha J, Wortmann Saskia B, Rahman Shamima, Pitceathly Robert D S, Donadieu Jean, Alimi Aurelia, Launay Vincent, Coppo Paul, Christin-Maitre Sophie, Robevska Gorjana, van den Bergen Jocelyn, Kline Brianna L, Ayers Katie L, Stewart Phoebe N, Stroud David A, Stojanovski Diana, Sinclair Andrew H

Abstract excerpt

CONTEXT: Premature ovarian insufficiency (POI) is a common form of female infertility that usually presents as an isolated condition but can be part of various genetic syndromes. Early diagnosis and treatment of POI can minimize comorbidity and improve health outcomes. OBJECTIVE: We aimed to determine the genetic cause of syndromic POI, intellectual disability, neutropenia, and cataracts. METHODS: We performed...

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PMID: 36074910
DOI: 10.1210/clinem/dgac528
PMCID: PMC9693831

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