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The retinal ciliopathies.
Adams NA, Awadein A, Toma HS. Adams NA, et al. Ophthalmic Genet. 2007 Sep;28(3):113-25. doi: 10.1080/13816810701537424. Ophthalmic Genet. 2007. PMID: 17896309 Review.
The retinal ciliopathies include retinitis pigmentosa, macular degeneration, cone-dystrophy, cone-rod dystrophy, Leber congenital amaurosis, as well as retinal degenerations associated with Usher syndrome, primary ciliary dyskinesia, Senior-Loken syndrome, Joubert syndr
The retinal ciliopathies include retinitis pigmentosa, macular degeneration, cone-dystrophy, cone-rod dystrophy, Leber congenital amaurosis, …
Congenital basis of posterior fossa anomalies.
Cotes C, Bonfante E, Lazor J, Jadhav S, Caldas M, Swischuk L, Riascos R. Cotes C, et al. Neuroradiol J. 2015 Jun;28(3):238-53. doi: 10.1177/1971400915576665. Neuroradiol J. 2015. PMID: 26246090 Free PMC article. Review.
Uncrossed epileptic seizures in Joubert syndrome.
López Ruiz P, García García ME, Dicapua Sacoto D, Marcos-Dolado A. López Ruiz P, et al. BMJ Case Rep. 2015 May 22;2015:bcr2014207719. doi: 10.1136/bcr-2014-207719. BMJ Case Rep. 2015. PMID: 26002775 Free PMC article. Review.
Joubert syndrome and related disorders comprise a subgroup of ciliopathies defined by the presence of the 'molar tooth sign', a midbrain-hindbrain malformation identifiable by neuroimaging. Characteristically, the corticospinal tract and superior cerebellar peduncle
Joubert syndrome and related disorders comprise a subgroup of ciliopathies defined by the presence of the 'molar tooth sign',