Improving the care of children with GENetic Rare disease: Observational Cohort study (GenROC): a study protocol

Abstract excerpt

Around 2000 children are born in the UK per year with a neurodevelopmental genetic syndrome with significantly increased morbidity and mortality(1). Often little is known about expected growth and phenotypes in these children. Parents have responded by setting up social media groups to generate data themselves. Given the significant clinical evidence gaps, this research will attempt to identify growth patterns, de...

Topics

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• Caregivers
• Chromosome Deletion
• Chromosomes, Human, Pair 9
• Cohort Studies
• Craniofacial Abnormalities
• Heart Defects, Congenital
• Intellectual Disability
• Prevalence

Identifiers and source

Literature Corpus work

414ca4bd-760c-5496-a9e8-75a098b7e642

DOI

10.1101/2024.02.23.24303131