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Volume 17 Supplement 1

French National Diagnosis and Care Protocols for Rare Diseases in Endocrinology and Diabetology

Reviews

Publication of this supplement has not been supported by sponsorship. Information about the source of funding for publication charges can be found in the individual articles. The articles have undergone the journal's standard peer review process for supplements.

  1. Dunnigan syndrome, or Familial Partial Lipodystrophy type 2 (FPLD2; ORPHA 2348), is a rare autosomal dominant disorder due to pathogenic variants of the LMNA gene. The objective of the French National Diagnosis a...

    Authors: H. Mosbah, B. Donadille, C. Vatier, S. Janmaat, M. Atlan, C. Badens, P. Barat, S. BĂ©liard, J. Beltrand, R. Ben Yaou, E. Bismuth, F. Boccara, B. Cariou, M. Chaouat, G. Charriot, S. Christin-Maitre…
    Citation: Orphanet Journal of Rare Diseases 2022 17(Suppl 1):170
  2. Turner syndrome (TS; ORPHA 881) is a rare condition in which all or part of one X chromosome is absent from some or all cells. It affects approximately one in every 1/2500 liveborn girls. The most frequently o...

    Authors: Elodie Fiot, Bertille Alauze, Bruno Donadille, Dinane Samara-Boustani, Muriel Houang, Gianpaolo De Filippo, Anne Bachelot, Clemence Delcour, Constance Beyler, Emilie Bois, Emmanuelle Bourrat, Emmanuel Bui Quoc, Nathalie Bourcigaux, Catherine Chaussain, Ariel Cohen, Martine Cohen-Solal…
    Citation: Orphanet Journal of Rare Diseases 2022 17(Suppl 1):261