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Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis

โœ Scribed by Douglas M. Silverstein; Leon Zacharowicz; Morris Edelman; Sunhee C. Lee; Ira Greifer; Isabelle Rapin

Publisher
Springer
Year
1997
Tongue
English
Weight
336 KB
Volume
11
Category
Article
ISSN
0931-041X

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๐Ÿ“œ SIMILAR VOLUMES

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โœ Lewis, S. M. E. ;Roberts, E. A. ;Marcon, M. A. ;Harvey, E. ;Phillips, M. J. ;Chu ๐Ÿ“‚ Article ๐Ÿ“… 1994 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 930 KB

## 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