Data from: A novel phenotype combining primary ovarian insufficiency growth retardation and pilomatricomas with MCM8 mutation

Abdelkader Heddar, Dominique Beckers, Baptiste Fouquet, Dominique Roland & Micheline Misrahi
Context: Primary Ovarian insufficiency (POI) affects 1% of women under 40 years and leads most often to definitive infertility with adverse health outcomes. Very recently, genes involved in DNA repair have been shown to cause POI. Objective: To identify the cause of a familial POI in a consanguineous Turkish family. Design: Exome sequencing was performed in the proposita and her mother. Chromosomal breaks were studied in lymphoblastoid cell lines treated with Mitomycin (MMC). Setting and...

Registration Year

  • 2020
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Resource Types

  • Dataset
    1

Affiliations

  • Institute of Pathology and Genetics
    1
  • Universit√© Catholique de Louvain
    1
  • University of Paris-Sud
    1