title: Xq;autosome translocation in POF: Xq27.2 deletion resulting in haploinsufficiency for SPANX.
authors.affiliation: Department of Obstetric and Gynecology, Division of Reproductive Endocrinology & Infertility, Women & Infants Hospital of Rhode Island, Warren Alpert Medical School of Brown University, Providence, RI 02903, USA. wvitek@wihri.org
authors.forename: Wendy S
authors.initials: WS
authors.lastname: Vitek
authors.forename: Kelly
authors.initials: K
authors.lastname: Pagidas
authors.forename: Guangyu
authors.initials: G
authors.lastname: Gu
authors.forename: John R
authors.initials: JR
authors.lastname: Pepperell
authors.forename: Joe Leigh
authors.initials: JL
authors.lastname: Simpson
authors.forename: Umadevi
authors.initials: U
authors.lastname: Tantravahi
authors.forename: Beth J
authors.initials: BJ
authors.lastname: Plante
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D041321:Chromosomes, Human, X / Q000235:genetics; D055028:Comparative Genomic Hybridization; D005260:Female; D057895:Haploinsufficiency / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007246:Infertility / Q000235:genetics*; D059785:Karyotype; D009363:Neoplasm Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics; D055815:Young Adult
chemical_list: C120625:LDOC1 protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; C414403:SPANXA1 protein, human; C521014:SPANXA2 protein, human; C403097:SPANXC protein, human; D025521:Tumor Suppressor Proteins
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