Articles with "national diagnosis" as a keyword



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

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Published in 2022 at "Orphanet Journal of Rare Diseases"

DOI: 10.1186/s13023-022-02308-7

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… read more here.

Keywords: national diagnosis; diagnosis; care; syndrome ... See more keywords