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

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; Protocole National de Diagnostic et de Soins), is to provide hea...

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Detalles Bibliográficos
Autores principales: Mosbah, H., Donadille, B., Vatier, C., Janmaat, S., Atlan, M., Badens, C., Barat, P., Béliard, S., Beltrand, J., Ben Yaou, R., Bismuth, E., Boccara, F., Cariou, B., Chaouat, M., Charriot, G., Christin-Maitre, S., De Kerdanet, M., Delemer, B., Disse, E., Dubois, N., Eymard, B., Fève, B., Lascols, O., Mathurin, P., Nobécourt, E., Poujol-Robert, A., Prevost, G., Richard, P., Sellam, J., Tauveron, I., Treboz, D., Vergès, B., Vermot-Desroches, V., Wahbi, K., Jéru, I., Vantyghem, M. C., Vigouroux, C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Position Statement
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9019936/
https://www.ncbi.nlm.nih.gov/pubmed/35440056
http://dx.doi.org/10.1186/s13023-022-02308-7

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