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

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...

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Detalles Bibliográficos
Autores principales: Engwerda, Aafke, Kerstjens-Frederikse, Wilhelmina S., Corsten-Janssen, Nicole, Dijkhuizen, Trijnie, van Ravenswaaij-Arts, Conny M. A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10024851/
https://www.ncbi.nlm.nih.gov/pubmed/36935482
http://dx.doi.org/10.1186/s13023-023-02658-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10024851/
https://www.ncbi.nlm.nih.gov/pubmed/36935482
http://dx.doi.org/10.1186/s13023-023-02658-w

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