MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum

Ingrid Bader, E. Decker,J.A. Mayr, V. Lunzer, J. Koch,E. Boltshauser, W. Sperl, P. Pietsch,B. Ertl-Wagner, H. Bolz,C. Bergmann,O. Rittinger

European Journal of Medical Genetics（2016）

引用 16|浏览14

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摘要

Joubert syndrome (JS) is a clinically and genetically heterogeneous ciliopathy characterized by episodic hyperpnea and apnea, hypotonia, ataxia, cognitive impairment and ocular motor apraxia. The “molar tooth sign” is pathognomonic of this condition.

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关键词

Joubert syndrome,Meckel-Gruber syndrome,Multiple sequence alignment,Evolutionary conservation,MKS1,Corpus-Callosum agenesis,Genotype-phenotype correlation,Ciliopathy,Dysmorphology,Syndromology,Bioinformatics,Missense-mutation,Founder mutation

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