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

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

Abstract 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 clinic...

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Bibliographic Details
Main Authors: Eleana Rraku, Wilhelmina S. Kerstjens-Frederikse, Morris A. Swertz, Trijnie Dijkhuizen, Conny M. A. van Ravenswaaij-Arts, Aafke Engwerda
Format: Article
Language:English
Published: BMC 2023-03-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Chromosome 6
Terminal 6p deletion
Interstitial 6p25 deletion
FOXC1
Chromosome 6 project
Social media
Online Access:https://doi.org/10.1186/s13023-023-02670-0

Internet

https://doi.org/10.1186/s13023-023-02670-0

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