Homozygous FIGLA missense variant in two Japanese sisters with primary ovarian insufficiency: Case reports and literature review

Homozygous FIGLA missense variant in two Japanese sisters with primary ovarian insufficiency: Case reports and literature review

Abstract Background FIGLA is a transcription factor gene which plays a critical role in folliculogenesis. Consistent with this, FIGLA variants have been identified in females with non‐syndromic primary ovarian insufficiency (POI) in both autosomal‐dominant and autosomal‐recessive forms. Case Descrip...

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Main Authors: Wataru Tanikawa, Hirotomo Saitsu, Yasuhiko Nakamura, Yuichiro Shirafuta, Yasuko Fujisawa, Maki Fukami, Norihiro Sugino, Tsutomu Ogata
Format: Article
Language:English
Published: Wiley 2025-01-01
Series:Reproductive Medicine and Biology
Subjects:
disease‐causing
FIGLA
inheritance
primary ovarian insufficiency
whole genome sequencing
Online Access:https://doi.org/10.1002/rmb2.12635
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https://doi.org/10.1002/rmb2.12635

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