Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum

MeSH terms

• Base Sequence
• Calcinosis / genetics
• Consanguinity
• Female
• Genome / genetics*
• Humans
• Male
• Malformations of Cortical Development / genetics*
• Microcephaly / genetics*
• Occludin / genetics*
• Phenotype
• Polymicrogyria / genetics*
• Sequence Analysis, DNA