Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene.

Tatiana Vladimirovna MarkovaVladimir KenisEvgeniy MelchenkoDarya GusevaDarya OsipovaNailya GaleevaTatiana NagornovaElena Leonidovna Dadali

Published in: Molecular genetics & genomic medicine (2022)

The data presented in the study enlarge the clinical, radiological, and mutational spectrum of pycnodysostosis. Typical clinical manifestations and the small size of the CTSK gene make the automated Sanger sequencing the optimal method for diagnosis of pycnodysostosis.

Keyphrases

copy number
genome wide
machine learning
deep learning
high throughput
dna methylation
genome wide identification
electronic health record
transcription factor
genome wide analysis