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Klinik und Genetik des Joubert-syndroms
Translated title of the contribution
:
Clinical features and genetics of Joubert syndrome
Y. Hellenbroich
*
, S. K. Frost,
G. Gillessen-Kaesbach
*
Corresponding author for this work
Institute of Human Genetics
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Medicine & Life Sciences
Agenesis of Cerebellar Vermis
100%
Ataxia
16%
Cilia
18%
Ciliopathies
23%
Coloboma
22%
Dyskinesias
17%
Eye Movements
16%
Fibrosis
11%
Genes
6%
Liver
8%
Magnetic Resonance Imaging
10%
Muscle Hypotonia
19%
Proteins
5%
Respiration
13%
Retinal Dystrophies
22%
Rhombencephalon
19%
Tooth
11%