Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)

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 observed karyotypes are 45,X (40–50%) and the 45,X/46,XX mosaic karyotype (15–25%). Karyotyp...

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Detalles Bibliográficos
Autores principales: Fiot, Elodie, Alauze, Bertille, Donadille, Bruno, Samara-Boustani, Dinane, Houang, Muriel, De Filippo, Gianpaolo, Bachelot, Anne, Delcour, Clemence, Beyler, Constance, Bois, Emilie, Bourrat, Emmanuelle, Bui Quoc, Emmanuel, Bourcigaux, Nathalie, Chaussain, Catherine, Cohen, Ariel, Cohen-Solal, Martine, Da Costa, Sabrina, Dossier, Claire, Ederhy, Stephane, Elmaleh, Monique, Iserin, Laurence, Lengliné, Hélène, Poujol-Robert, Armelle, Roulot, Dominique, Viala, Jerome, Albarel, Frederique, Bismuth, Elise, Bernard, Valérie, Bouvattier, Claire, Brac, Aude, Bretones, Patricia, Chabbert-Buffet, Nathalie, Chanson, Philippe, Coutant, Regis, de Warren, Marguerite, Demaret, Béatrice, Duranteau, Lise, Eustache, Florence, Gautheret, Lydie, Gelwane, Georges, Gourbesville, Claire, Grynberg, Mickaël, Gueniche, Karinne, Jorgensen, Carina, Kerlan, Veronique, Lebrun, Charlotte, Lefevre, Christine, Lorenzini, Françoise, Manouvrier, Sylvie, Pienkowski, Catherine, Reynaud, Rachel, Reznik, Yves, Siffroi, Jean-Pierre, Tabet, Anne-Claude, Tauber, Maithé, Vautier, Vanessa, Tauveron, Igor, Wambre, Sebastien, Zenaty, Delphine, Netchine, Irène, Polak, Michel, Touraine, Philippe, Carel, Jean-Claude, Christin-Maitre, Sophie, Léger, Juliane
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Position Statement
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9277788/
https://www.ncbi.nlm.nih.gov/pubmed/35821070
http://dx.doi.org/10.1186/s13023-022-02423-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9277788/
https://www.ncbi.nlm.nih.gov/pubmed/35821070
http://dx.doi.org/10.1186/s13023-022-02423-5

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