Article

Musculoskeletal phenotypes in 3q29 deletion syndrome

2023-04-03

Abstract excerpt

3q29 deletion syndrome (3q29del) is a rare genomic disorder caused by a 1.6 Mb deletion (hg19, chr3:195725000–197350000). 3q29del is associated with neurodevelopmental and psychiatric phenotypes, including an astonishing >40-fold increased risk for schizophrenia, but medical phenotypes are less well-described. We used the online 3q29 registry ( 3q29deletion.org ) to recruit 57 individuals with 3q29del (56.14% male...

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Literature Corpus work: e74cff66-9081-5775-8a4c-867ce1a4b643
DOI: 10.1101/2023.04.03.23288084

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