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

Am J Med Genet A

Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar; Weill Cornell Medical College, Qatar.

Published: June 2014

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http://dx.doi.org/10.1002/ajmg.a.36485	DOI Listing

Publication Analysis

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microcephaly band-like

band-like calcification

calcification polymicrogyria

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