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

American Journal of Medical Genetics, Part A

Volumn 164, Issue 6, 2014, Pages 1614-1617

  Elsaid, Mahmoud F ^a,b   Kamel, Hussein ^a,b   Chalhoub, Nader ^b,c   Aziz, Nahla Abdel ^b,d   Ibrahim, Khalid ^a,b   Ben Omran, Tawfeg ^a,b   George, Binu ^b   Al Dous, Eman ^b   Mohamoud, Yasmin ^b   Malek, Joel A ^b   Ross, M Elizabeth ^c   Aleem, Alice Abdel ^a,b,c,d  

^a HAMAD MEDICAL CORPORATION   (Qatar)

^b WEILL CORNELL MEDICAL COLLEGE   (Qatar)

^c FEIL FAMILY BRAIN AND MIND RESEARCH INSTITUTE   (United States)

^d NATIONAL RESEARCH CENTRE   (Egypt)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; OCCLUDIN; OCLN PROTEIN, HUMAN;

ARAB; BRAIN CALCIFICATION; CASE REPORT; CHILD; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DEHYDRATION; DIABETES INSIPIDUS; DISEASE SEVERITY; FEMALE; GASTROESOPHAGEAL REFLUX; GENE MUTATION; GENE SEQUENCE; HOSPITAL ADMISSION; HUMAN; HUMAN GENOME; HYPERNATREMIA; INFANT; LETTER; METABOLIC ACIDOSIS; MICROCEPHALY; MICROGYRIA; MYELINATION; MYOCLONUS SEIZURE; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCLUDIN GENE; PHENOTYPE; POLYURIA; PRESCHOOL CHILD; PRIORITY JOURNAL; TIGHT JUNCTION; VOMITING; CALCINOSIS; CONSANGUINITY; CORTICAL DYSPLASIA; DNA SEQUENCE; GENETICS; GENOME; MALE; NUCLEOTIDE SEQUENCE;

BASE SEQUENCE; CALCINOSIS; CONSANGUINITY; FEMALE; GENOME; HUMANS; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; MICROCEPHALY; OCCLUDIN; PHENOTYPE; POLYMICROGYRIA; SEQUENCE ANALYSIS, DNA;

EID: 84899907222     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36485     Document Type: Letter

References (9)

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