Fertility and Sterility
Volume 92, Issue 4 , Pages 1347-1350 , October 2009

Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility

  • Giovanna Vinci, M.D., Ph.D.

      Affiliations

    • Human Developmental Genetics, Institut Pasteur, Paris, France
    • ,
  • Raja Brauner, M.D., Ph.D.

      Affiliations

    • Université Paris Descartes and AP-HP, Hôpital Bicêtre, Unité d'Endocrinologie pédiatrique, Le Kremlin Bicêtre, France
    • ,
  • Attila Tar, M.D.

      Affiliations

    • Heim Pál Children's Hospital, Budapest, Hungary
    • ,
  • Hassan Rouba, Ph.D.

      Affiliations

    • Human Genetics Unit, Institut Pasteur of Morocco, Casablanca, Morroco
    • ,
  • Jayesh Sheth, Ph.D.

      Affiliations

    • Foundation For Research in Genetics and Endocrinology, FRIGE, House, Satellite, Ahmedabad, Gujarat, India
    • ,
  • Frenny Sheth, Ph.D.

      Affiliations

    • Foundation For Research in Genetics and Endocrinology, FRIGE, House, Satellite, Ahmedabad, Gujarat, India
    • ,
  • Celia Ravel, M.D., Ph.D.

      Affiliations

    • Human Developmental Genetics, Institut Pasteur, Paris, France
    • UPMC Univ Paris, Paris, France
    • AP-HP, Hôpital Tenon, Service d'Histologie Biologie de la Reproduction, Paris, France
    • ,
  • Ken McElreavey, Ph.D.

      Affiliations

    • Human Developmental Genetics, Institut Pasteur, Paris, France
    • Corresponding Author InformationReprint requests: Ken McElreavey, Ph.D., Human Developmental Genetics, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France (FAX: 00 33 1 4568 8639).
    • ,
  • Anu Bashamboo, Ph.D.

      Affiliations

    • Human Developmental Genetics, Institut Pasteur, Paris, France

Received 4 February 2009 ,Revised 3 April 2009 ,Accepted 3 April 2009.

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 G.V. has nothing to disclose. R.B. has nothing to disclose. A.T. has nothing to disclose. H.R. has nothing to disclose. J.S. has nothing to disclose. F.S. has nothing to disclose. C.R. has nothing to disclose. K.M. has nothing to disclose. A.B. has nothing to disclose.

 Supported by the Association pour la Recherche contre le Cancer and by a research grant (1-FY07-490) from the March of Dimes Foundation (to Dr. McElreavey).

PII: S0015-0282(09)00839-5

doi: 10.1016/j.fertnstert.2009.04.009

Fertility and Sterility
Volume 92, Issue 4 , Pages 1347-1350 , October 2009

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