MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum
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