2024
DOI: 10.1101/2024.10.21.24315854
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Developing Del2Phen: a novel phenotype description tool for chromosome deletions

Eleana Rraku,
Tyler D. Medina,
Conny M.A. van Ravenswaaij-Arts
et al.

Abstract: Information on the health-related consequences of rare chromosome disorders is often limited, posing challenges for both patients and their families. The Chromosome 6 Project aims to bridge this knowledge gap for structural aberrations involving chromosome 6 by providing parents of affected children with information on the expected phenotypes of their child. To achieve this, detailed phenotype and genotype data is collected directly from parents worldwide and supplemented with data from literature reports, res… Show more

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