Musculoskeletal phenotypes in 3q29 deletion syndrome

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 w...

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Detalles Bibliográficos
Autores principales: Pollak, Rebecca M, Tilmon, Jacob C, Murphy, Melissa M, Gambello, Michael J, Russo, Rossana Sanchez, Dormans, John P, Mulle, Jennifer G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10104205/
https://www.ncbi.nlm.nih.gov/pubmed/37066183
http://dx.doi.org/10.1101/2023.04.03.23288084

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10104205/
https://www.ncbi.nlm.nih.gov/pubmed/37066183
http://dx.doi.org/10.1101/2023.04.03.23288084

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