Article

The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for<i>DLL1</i>

2022-11-14

Abstract excerpt

<h4>Background</h4> 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 Medi...

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Literature Corpus work: 0d8ad92c-6afd-52ec-b5df-cecc9b710d76
DOI: 10.1101/2022.11.08.22282043

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