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Article

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

Orphanet journal of rare diseases - 19 Mar 2023

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

Abstract excerpt

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 health professionals and the parents of children with rare diseases. Since existing databases are often hampered by...

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Identifiers

PMID: 36935495
DOI: 10.1186/s13023-023-02657-x
PMCID: PMC10024830

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