Article
Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56.
Journal of internal medicine - 1 May 2021
Legrand A, Pujol C, Durand C M, Mesnil A, Rubera I, Duranton C, Zuily S, Sousa A B, Renaud M, Boucher J L, Pietrancosta N, Adham S, Orssaud C, Marelli C, Casali C, Ziccardi L, Villain N, Ewenczyk C, Durr A, Mignot C, Stevanin G, Billon C, Hureaux M, Jeunemaitre X, Goizet C, Albuisson J
Abstract excerpt
PURPOSE: Pseudoxanthoma elasticum (PXE) is a recessive disorder involving skin, eyes and arteries, mainly caused by ABCC6 pathogenic variants. However, almost one fifth of patients remain genetically unsolved despite extensive genetic screening of ABCC6, as illustrated in a large French PXE series of 220 cases. We searched for new PXE gene(s) to solve the ABCC6-negative patients. METHODS: First, family-based...
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