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Article

Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent-Centered Website: Parental and Professional Views.

American journal of medical genetics. Part A - 1 Jul 2025

Rraku Eleana, Engwerda Aafke, Medina Tyler D, Swertz Morris A, Johansson Lennart F, van Ravenswaaij-Arts Conny M A, Christiaans Imke

Abstract excerpt

The scarcity of clinical information surrounding rare chromosome disorders poses challenges for parents and clinicians. To bridge this gap for chromosome 6 disorders, the Chromosome 6 Project collects detailed genotype and phenotype data, aiming to provide aberration-specific phenotype information to parents via an interactive website. With input from 32 parents and 21 professionals, including medical doctors,...

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Share to Chromosome Disorders
Share to Chromosomes, Human, Pair 6

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 40079377
DOI: 10.1002/ajmg.a.64038

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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