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Cognitive development and behavior in Joubert syndrome

โœ Scribed by Thierry Deonna; Anne-Lise Ziegler

Book ID
118856256
Publisher
Elsevier Science
Year
1993
Tongue
English
Weight
108 KB
Volume
33
Category
Article
ISSN
0006-3223

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Clinical and molecular analysis in Joube
Clinical and molecular analysis in Joubert syndrome
โœ Pellegrino, Joan E.; Lensch, M. William; Muenke, Maxmilian; Chance, Phillip F. ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 20 KB ๐Ÿ‘ 2 views

Joubert syndrome is an autosomal recessive disorder comprising cerebellar hypoplasia, hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements. The biochemical basis of the Joubert syndrome is unknown. We ascertained a cohort of 50 patients with the Joubert syndrome