An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 7, 2012, Pages 1771-1777

  Shimada, Shino ^a   Miya, Kazushi ^b   Oda, Nozomi ^c   Watanabe, Yuki ^b   Kumada, Tomohiro ^c   Sugawara, Midori ^a   Shimojima, Keiko ^a   Yamamoto, Toshiyuki ^a  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b UNIVERSITY OF TOYAMA   (Japan)

^c SHIGA MEDICAL CENTER FOR CHILDREN   (Japan)

Author keywords

14q24.3; Eukaryotic translation initiation factor 2B (EIF2B); Unmasked mutation; Vanishing white matter (VWM)

Indexed keywords

INITIATION FACTOR 2ALPHA;

ARTICLE; BRAIN DISEASE; CASE REPORT; CEREBELLUM HYPOPLASIA; CHILD; CHROMOSOME DELETION; CHROMOSOME DELETION 14Q; CLINICAL FEATURE; DEMYELINATION; DEVELOPMENTAL DISORDER; EIF2B2 GENE; FAMILY HISTORY; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CODE; HEMIZYGOSITY; HETEROZYGOTE; HUMAN; MALE; MICROARRAY ANALYSIS; MICROGNATHIA; MISSENSE MUTATION; MUTATIONAL ANALYSIS; MYOCLONUS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; VANISHING WHITE MATTER DISEASE;

BASE SEQUENCE; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 14; COMPARATIVE GENOMIC HYBRIDIZATION; EUKARYOTIC INITIATION FACTOR-2B; FACIES; GENETIC ASSOCIATION STUDIES; HUMANS; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NEUROIMAGING;

EUKARYOTA;

EID: 84862676758     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35431     Document Type: Article

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