Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva.

Mariasavina SeverinoMarta BertaminoDomenico TortoraGiovanni MoranaSara UccellaRenata BocciardiRoberto RavazzoloAndrea RossiMaja Di Rocco

Published in: Journal of medical genetics (2016)

Our data support the hypothesis that the effects of mutation of the ACVR1/ALK2 gene are extended to the central nervous system. Brainstem hamartomatous lesions and dysmorphisms, variably associated with dentate nucleus and basal ganglia signal abnormalities and/or calcifications, may represent useful disease hallmarks.

Keyphrases

advanced non small cell lung cancer
electronic health record
copy number
genome wide
blood brain barrier
big data
cerebrospinal fluid
machine learning
artificial intelligence
deep learning