Additional Metadata
Keywords 22q11.2 deletion syndrome, 5q11.2 microdeletion syndrome, CHARGE syndrome, Choanal atresia, DHX29, Intellectual disability
Persistent URL dx.doi.org/10.1002/ajmg.a.36680, hdl.handle.net/1765/85798
Journal American Journal of Medical Genetics. Part A
Citation
Snijders Blok, C, Corsten-Janssen, N, Fitzpatrick, D.R, Romano, C, Fichera, M, Vitello, G.A, … Kleefstra, T. (2014). Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes. American Journal of Medical Genetics. Part A, 164(11), 2843–2848. doi:10.1002/ajmg.a.36680