| 1 | JBTS28, MKS1
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| MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.
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| Bader I, Decker E, Mayr JA, Lunzer V, Koch J, Boltshauser E, Sperl W, Pietsch P, Ertl-Wagner B, Bolz H, Bergmann C, Rittinger O.
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| Eur J Med Genet 59(8):386-91. doi: 10.1016/j.ejmg.2016.06.007. Epub 2016 Jul 1. Review.
2016
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| 2 | JBTS28, MKS1
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| Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.
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| Irfanullah, Khan S, Ullah I, Nasir A, Meijer CA, Laurense-Bik M, den Dunnen JT, Ruivenkamp CA, Hoffer MJ, Santen GW, Ahmad W.
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| Am J Med Genet A 170(12):3289-3293. doi: 10.1002/ajmg.a.37934. Epub 2016 Aug 29.
2016
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| 3 | B9D1, JBTS27, JBTS28, MKS1
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| Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
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| Romani M, Micalizzi A, Kraoua I, Dotti MT, Cavallin M, Sztriha L, Ruta R, Mancini F, Mazza T, Castellana S, Hanene B, Carluccio MA, Darra F, Máté A, Zimmermann A, Gouider-Khouja N, Valente EM.
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| Orphanet J Rare Dis 9:72. doi: 10.1186/1750-1172-9-72.
2014
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