Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)

Autor: H. Mosbah, B. Donadille, C. Vatier, S. Janmaat, M. Atlan, C. Badens, P. Barat, S. Béliard, J. Beltrand, R. Ben Yaou, E. Bismuth, F. Boccara, B. Cariou, M. Chaouat, G. Charriot, S. Christin-Maitre, M. De Kerdanet, B. Delemer, E. Disse, N. Dubois, B. Eymard, B. Fève, O. Lascols, P. Mathurin, E. Nobécourt, A. Poujol-Robert, G. Prevost, P. Richard, J. Sellam, I. Tauveron, D. Treboz, B. Vergès, V. Vermot-Desroches, K. Wahbi, I. Jéru, M. C. Vantyghem, C. Vigouroux

Publikováno v: Orphanet Journal of Rare Diseases, Vol 17, Iss S1, Pp 1-23 (2022)

Abstract 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 and Care Protocol (PNDS; Proto

Externí odkaz: https://doaj.org/article/c3278822ae464ece9712cedafbbea00f

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X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood

Autor: Elodie Fiot, Delphine Zénaty, Priscilla Boizeau, Jérémie Haignere, Sophie Dos Santos, Juliane Léger, J C Carel, S Cabrol, P Chanson, S Christin-Maitre, C Courtillot, B Donadille, J Dulon, M Houang, M Nedelcu, I Netchine, M Polak, S Salenave, D Samara-Boustani, D Simon, P Touraine, M Viaud, H Bony, K Braun, R Desailloud, A M Bertrand, B Mignot, F Schillo, P Barat, V Kerlan, C Metz, E Sonnet, Y Reznik, V Ribault, H Carla, I Tauveron, C Bensignor, F Huet, B Verges, O Chabre, C Dupuis, A Spiteri, M Cartigny, C Stuckens, J Weill, A Lienhardt, C Naud-Saudreau, F Borson-Chazot, A Brac de la Perriere, M Pugeat, T Brue, R Reynaud, G Simonin, F Paris, C Sultan, B Leheup, G Weryha, S Baron, B Charbonnel, S Dubourdieu, E Baechler, P Fenichel, K Wagner, F Compain, H Crosnier, C Personnier, B Delemer, A C Hecart, P F Souchon, M De Kerdanet, F Galland, S Nivot-Adamiak, M Castanet, C Lecointre, O Richard, N Jeandidier, S Soskin, P Lecomte, M Pepin-Donat, P Pierre

Publikováno v: European Journal of Endocrinology
European Journal of Endocrinology, 2019, 180 (6), pp.397-406. ⟨10.1530/EJE-18-0878⟩
European Journal of Endocrinology, BioScientifica, 2019, 180 (6), pp.397-406. ⟨10.1530/EJE-18-0878⟩

ObjectiveTurner Syndrome is associated with several phenotypic conditions associated with a higher risk of subsequent comorbidity. We aimed to evaluate the prevalence of congenital malformations and the occurrence of age-related comorbid conditions a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90141f9c76344ac051168fc9f8ff886a
https://doi.org/10.1530/eje-18-0878

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