Healthcare recommendations for Joubert syndrome.
Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D'Arrigo S, Glass IA, Heller T, Héon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, Snow J, Summers AC, Symons JM, Zein WM, Boltshauser E, Sayer JA, Gunay-Aygun M, Valente EM, Doherty D.
Bachmann-Gagescu R, et al.
Am J Med Genet A. 2020 Jan;182(1):229-249. doi: 10.1002/ajmg.a.61399. Epub 2019 Nov 11.
Am J Med Genet A. 2020.
PMID: 31710777
Free PMC article.
Review.
Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic resonance imaging as the "Molar Tooth Sign". ...
Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation re …