Genetic & Genomic MedicinemedRxivPreprint
The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1
Aafke Engwerda, Wilhelmina S. Kerstjens‐Frederikse, Nicole Corsten‐Janssen…·Conny M.A. van Ravenswaaij‐Arts
This study analyzes a large cohort of individuals with terminal 6q deletions to identify a common phenotype linked to the DLL1 gene and highlights the variability associated with larger deletions involving QKI.
2 citations