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Joubert syndrome co-existing with partial Xp trisomy: review of the literature.
Genet Couns. 2004;15(3):321-8.
Genet Couns. 2004.
PMID: 15517825
Review.
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attié-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, Otto EA, Hildebrandt F, Glass IA, Logan CV, Johnson CA, Bennett C, Brancati F; International Joubert Syndrome Related Disorders Study Group; Valente EM, Woods CG, Gleeson JG.
Cantagrel V, et al.
Am J Hum Genet. 2008 Aug;83(2):170-9. doi: 10.1016/j.ajhg.2008.06.023.
Am J Hum Genet. 2008.
PMID: 18674751
Free PMC article.
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A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family.
Delague V, Bareil C, Bouvagnet P, Salem N, Chouery E, Loiselet J, Mégarbané A, Claustres M.
Delague V, et al.
Neurogenetics. 2002 Mar;4(1):23-7. doi: 10.1007/s10048-001-0127-z.
Neurogenetics. 2002.
PMID: 12030328
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