Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability

Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability

Abstract Background Even with the introduction of new genetic techniques that enable accurate genomic characterization, knowledge about the phenotypic spectrum of rare chromosomal disorders is still limited, both in literature and existing databases. Yet this clinical information is of utmost import...

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Bibliographic Details
Main Authors: Aafke Engwerda, Barbara Frentz, Eleana Rraku, Nadia F. Simoes de Souza, Morris A. Swertz, Mirjam Plantinga, Wilhelmina S. Kerstjens-Frederikse, Adelita V. Ranchor, Conny M. A. van Ravenswaaij-Arts
Format: Article
Language:English
Published: BMC 2023-03-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Social media
Patient participation
Chromosome 6
Rare disease
Self-phenotyping
Parent-reported phenotype
Online Access:https://doi.org/10.1186/s13023-023-02657-x

Internet

https://doi.org/10.1186/s13023-023-02657-x

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