Article
The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1.
Orphanet journal of rare diseases - 19 Mar 2023
Engwerda Aafke, Kerstjens-Frederikse Wilhelmina S, Corsten-Janssen Nicole, Dijkhuizen Trijnie, van Ravenswaaij-Arts Conny M A
Abstract excerpt
BACKGROUND: Terminal 6q deletions are rare, and the number of well-defined published cases is limited. Since parents of children with these aberrations often search the internet and unite via international social media platforms, these dedicated platforms may hold valuable knowledge about additional cases. The Chromosome 6 Project is a collaboration between researchers and clinicians at the University Medical...
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