MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum

Published 2016 View Full Article

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Title
MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum
Authors
Keywords
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
Journal
European Journal of Medical Genetics
Volume 59, Issue 8, Pages 386-391
Publisher
Elsevier BV
Online
2016-07-03
DOI
10.1016/j.ejmg.2016.06.007

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