Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases.

Sahand Tehrani Fateh Nadia Mohammad Zadeh Shadab Salehpour Feyzollah Hashemi-Gorji Ashkan Omidi Hossein Sadeghi Reza Mirfakhraie Parinaz Moghimi Sepideh KeyvanfarSepideh Mohammadi SarvalehMohammad Miryounesi Mohammad Reza Ghasemi

Published in: BMC medical genomics (2024)

The study shows the importance of considering mosaicism in classic CdLS cases and the value of WES for identifying genetic defects. These findings contribute to our understanding of CdLS genetics and underscore the need for comprehensive genetic testing to enhance the diagnosis and management of CdLS patients.

Keyphrases

end stage renal disease
copy number
genome wide
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
gene expression
single cell
soft tissue
fine needle aspiration