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Disease name: De Barsy syndrome
ICD 10: Q87.7; OMIM 614438 ORPHAcode: 2962
Synonyms: 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
Citable version for download in the Journal A&I www.ai-online.info:
DOI: 10.19224/ai2021.s100
Citable version, published in 2021.
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