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

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 importance for...

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Detalles Bibliográficos
Autores principales: Engwerda, Aafke, Frentz, Barbara, Rraku, Eleana, de Souza, Nadia F. Simoes, Swertz, Morris A., Plantinga, Mirjam, Kerstjens-Frederikse, Wilhelmina S., Ranchor, Adelita V., 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/PMC10024830/
https://www.ncbi.nlm.nih.gov/pubmed/36935495
http://dx.doi.org/10.1186/s13023-023-02657-x

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