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A severe case of PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome associated with several arterial and venous complications: A case report.
Foy M, Métay C, Frank M, Denarié N, Adham S, Billon C, Legrand A, Jeunemaitre X, Gillas F, Gaudon K, De Mazancourt P, Mekki A, Carlier R, Benistan K. Foy M, et al. Among authors: de mazancourt p. Clin Case Rep. 2023 Feb 27;11(2):e6760. doi: 10.1002/ccr3.6760. eCollection 2023 Feb. Clin Case Rep. 2023. PMID: 36860721 Free PMC article.
Management of rare inherited bleeding disorders: Proposals of the French Reference Centre on Haemophilia and Rare Coagulation Disorders.
Trossaert M, Chamouard V, Biron-Andreani C, Casini A, De Mazancourt P, De Raucourt E, Drillaud N, Frotscher B, Guillet B, Lebreton A, Roussel-Robert V, Rugeri L, Dargaud Y. Trossaert M, et al. Among authors: de mazancourt p. Eur J Haematol. 2023 Jun;110(6):584-601. doi: 10.1111/ejh.13941. Epub 2023 Feb 20. Eur J Haematol. 2023. PMID: 36748278 Review.
A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers-Danlos syndrome that proved to be a COL1-related overlap disorder.
Foy M, De Mazancourt P, Métay C, Carlier R, Allamand V, Gartioux C, Gillas F, Miri N, Jobic V, Mekki A, Richard P, Michot C, Benistan K. Foy M, et al. Among authors: de mazancourt p. Clin Case Rep. 2021 Jun 26;9(9):e04128. doi: 10.1002/ccr3.4128. eCollection 2021 Sep. Clin Case Rep. 2021. PMID: 34484741 Free PMC article.
141 results