Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States.

Julie Elizabeth Hoover-Fong Adekemi Y AladeS Shahrukh HashmiJacqueline T HechtJanet M LegareMary Ellen LittleChengxin LiuJohn McGreadyPeggy ModaffRichard M Pauli David F Rodriguez-Buritica Kerry J SchulzeMaria Elena SernaCory J SmidMichael B Bober

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)

This is the largest multicenter achondroplasia natural history study, providing a vast array of medical information for use in caring for these patients. This well-phenotyped cohort is a reference population against which future medical and surgical interventions can be compared.

Keyphrases

healthcare
physical activity
newly diagnosed
prognostic factors
high throughput
single cell
social media
patient reported
health information