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Joubert syndrome 15
Did you mean robert syndrome 15?
- ... JOUBERT SYNDROME 21; JBTS21 JOUBERT SYNDROME 24; JBTS24 JOUBERT SYNDROME 15; JBTS15 JOUBERT SYNDROME 16; JBTS16 JOUBERT SYNDROME 27; JBTS27 JOUBERT SYNDROME ...
- ... Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum disorder. The prevalence of isolated ... DT, Dobyns WB. Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology ... Am J Med Genet A. 2006 Nov 15;140(22):2416-25. doi: 10.1002/ajmg. ...
- ... at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of the body, causing neurological ...
- ... Gebre-Medhin S, Hofstra RM, Schafer MK. L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains. Clin Genet. 2017 Jan;91(1):115-120. doi: 10.1111/cge.12763. Epub 2016 Mar 15. Citation on PubMed Ferese R, Zampatti S, Griguoli ...