Phenotypic and Molecular Spectrum of a Turkish Cohort with Hereditary Multiple Osteochondromas.

Nilay GüneşDilek Uludağ AlkayaAslı ToyluPüren ÖzüdoğruEvrim Çifçi SunamakAli ŞekerBilal DemirSebuh KuruğoğluErcan MıhçıBeyhan Tüysüz

Published in: Turkish archives of pediatrics (2023)

We report a hereditary multiple osteochondroma cohort with clinical and molecular data including 12 novel intragenic variants in EXT1 or EXT2, and 4 microdeletions involving EXT1. Taken together, our data expand the existing knowledge of the phenotype-genotype spectrum in hereditary multiple osteochondroma.

Keyphrases

electronic health record
big data
copy number
machine learning
dna methylation
data analysis
deep learning