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Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea.
Ben Hadj Hmida, Imen; Mougou-Zerelli, Soumaya; Hadded, Anis; Dimassi, Sarra; Kammoun, Molka; Bignon-Topalovic, Joelle; Bibi, Mohamed; Saad, Ali; Bashamboo, Anu; McElreavey, Ken.
Afiliación
  • Ben Hadj Hmida I; Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia; Human Developmental Genetics, Institut Pasteur, Paris, France.
  • Mougou-Zerelli S; Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.
  • Hadded A; Department of Gynecology and Obstetrics, Farhat Hached University Hospital, Sousse, Tunisia.
  • Dimassi S; Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.
  • Kammoun M; Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.
  • Bignon-Topalovic J; Human Developmental Genetics, Institut Pasteur, Paris, France.
  • Bibi M; Department of Gynecology and Obstetrics, Fattouma Bourguiba Teaching Hospital, Monastir, Tunisia.
  • Saad A; Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.
  • Bashamboo A; Human Developmental Genetics, Institut Pasteur, Paris, France.
  • McElreavey K; Human Developmental Genetics, Institut Pasteur, Paris, France. Electronic address: kenneth.mcelreavey@pasteur.fr.
Fertil Steril ; 106(1): 225-229.e11, 2016 07.
Article en En | MEDLINE | ID: mdl-27016457
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Receptores de HL / Codón sin Sentido / Trastorno del Desarrollo Sexual 46,XY / Amenorrea / Homocigoto Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans Idioma: En Revista: Fertil Steril Año: 2016 Tipo del documento: Article País de afiliación: Francia
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Receptores de HL / Codón sin Sentido / Trastorno del Desarrollo Sexual 46,XY / Amenorrea / Homocigoto Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans Idioma: En Revista: Fertil Steril Año: 2016 Tipo del documento: Article País de afiliación: Francia