Folder De-Barsy-Syndrom
Erkrankung: De Barsy syndrome / De-Barsy-Syndrom
ICD 10: Q87.7; OMIM 614438 ORPHAcode: 2962
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
Zitierfähige Version zum Download in der Zeitschrift A&I www.ai-online.info:
Citable version, published in 2021.
Translations may not always reflect the most recent updates of the English version.
