The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review

BACKGROUND: Terminal 6p deletions are rare, and information on their clinical consequences is scarce, which impedes optimal management and follow-up by clinicians. The parent-driven Chromosome 6 Project collaborates with families of affected children worldwide to better understand the clinical effec...

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Detalles Bibliográficos
Autores principales: Rraku, Eleana, Kerstjens-Frederikse, Wilhelmina S., Swertz, Morris A., Dijkhuizen, Trijnie, van Ravenswaaij-Arts, Conny M. A., Engwerda, Aafke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10039519/
https://www.ncbi.nlm.nih.gov/pubmed/36964621
http://dx.doi.org/10.1186/s13023-023-02670-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10039519/
https://www.ncbi.nlm.nih.gov/pubmed/36964621
http://dx.doi.org/10.1186/s13023-023-02670-0

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