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The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders

✍ Scribed by SHIFTEH SATTAR; JOSEPH G GLEESON


Book ID
111131814
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
250 KB
Volume
53
Category
Article
ISSN
0012-1622

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## Abstract Joubert syndrome is an autosomal recessive inherited condition characterized by agenesis or hypoplasia of the cerebellar vermis, retinal dystrophy, chorioretinal colobomata, oculomotor abnormalities, episodic hyperpnea, ataxia, and mental retardation. Congenital hepatic fibrosis has not