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

2022-11-08 genetic and genomic medicine Title + abstract only
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BackgroundEven 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 the limited time and willingness of health professionals to input new data, we collec...

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