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Paternal Origin and Subsequent Maternal Inheritance of a Novel FOXL2 Frameshift Variant Underlie Accelerated Ovarian Aging: A Three-Generation BPES-I Family Study

2026-08-28

Abstract excerpt

<title>Abstract</title> <p> <bold>Background</bold> : Type I Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES-I) is characterized by eyelid malformations and Premature Ovarian Insufficiency (POI). While <italic>FOXL2</italic> variants are the primary cause, the impact of paternal origin followed by maternal inheritance on ovarian aging trajectories remains poorly defined. This study characterizes a...

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Literature Corpus work: 6b220a39-7518-5263-b307-611cc29547c1
DOI: 10.21203/rs.3.rs-10612870/v1

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