Folder De-Barsy-Syndrom
Erkrankung: De Barsy syndrome / De-Barsy-Syndrom
ICD 10: Q87.7; OMIM 614438
Synonyme: DBS, De Barsy-Moens-Dierckx syndrome, Progeroid syndrome of De Barsy, Autosomal recessive cutis laxa Type 3
*With 2 gene subdivisions:
ARCL3A: caused by a ALDH18A1 mutation
ARCL3B: caused by a PYCR1 mutation
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