title: Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum.
authors.affiliation: Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar; Weill Cornell Medical College, Qatar.
authors.forename: Mahmoud F
authors.initials: MF
authors.lastname: Elsaid
authors.forename: Hussein
authors.initials: H
authors.lastname: Kamel
authors.forename: Nader
authors.initials: N
authors.lastname: Chalhoub
authors.forename: Nahla Abdel
authors.initials: NA
authors.lastname: Aziz
authors.forename: Khalid
authors.initials: K
authors.lastname: Ibrahim
authors.forename: Tawfeg
authors.initials: T
authors.lastname: Ben-Omran
authors.forename: Binu
authors.initials: B
authors.lastname: George
authors.forename: Eman
authors.initials: E
authors.lastname: Al-Dous
authors.forename: Yasmin
authors.initials: Y
authors.lastname: Mohamoud
authors.forename: Joel A
authors.initials: JA
authors.lastname: Malek
authors.forename: M Elizabeth
authors.initials: ME
authors.lastname: Ross
authors.forename: Alice Abdel
authors.initials: AA
authors.lastname: Aleem
mesh_terms: D001483:Base Sequence; D002114:Calcinosis / Q000235:genetics; D003241:Consanguinity; D005260:Female; D016678:Genome / Q000235:genetics*; D006801:Humans; D008297:Male; D054220:Malformations of Cortical Development / Q000235:genetics*; D008831:Microcephaly / Q000235:genetics*; D062793:Occludin / Q000235:genetics*; D010641:Phenotype; D065706:Polymicrogyria / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: C568985:OCLN protein, human; D062793:Occludin