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New preprint – Musculoskeletal phenotypes in 3q29 deletion syndrome

We have a new preprint out on medRxiv, titled “Musculoskeletal phenotypes in 3q29 deletion syndrome”! In this paper we analyzed data from a customized questionnaire on musculoskeletal phenotypes from a cohort of individuals with 3q29 deletion syndrome. We found that individuals with 3q29 deletion syndrome experience a high rate of musculoskeletal problems, including congenital anomalies and joint problems, and a substantial majority of participants reported receiving medical care for their musculoskeletal complaints. This is the first study to explore the range of musculoskeletal phenotypes associated with the 3q29 deletion, and expands our understanding of the clinical presentation of this syndrome. Read the full preprint here: https://www.medrxiv.org/content/10.1101/2023.04.03.23288084v1