De novo microdeletion of 5q14.3 excluding MEF2C in a patient with infantile spasms, microcephaly, and agenesis of the corpus callosum

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 9, 2012, Pages 2272-2276

  Shimojima, Keiko ^a   Okumura, Akihisa ^b   Mori, Harushi ^c   Abe, Shinpei ^b   Ikeno, Mitsuru ^b   Shimizu, Toshiaki ^b   Yamamoto, Toshiyuki ^a  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

Author keywords

5q14.3 deletion; Agenesis of the corpus callosum; Infantile spasms; MEF2C

Indexed keywords

CORTICOTROPIN; CYCLIN H;

5Q14.3 MICRODELETION SYNDROME; ARTICLE; CASE REPORT; CCNH GENE; CENTROMERE; CHILD; CHROMOSOME 5Q; CHROMOSOME 5Q14.3; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CORPUS CALLOSUM AGENESIS; COX7C GENE; EDIL3 GENE; ELECTROENCEPHALOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DOSAGE; GENE EXPRESSION; HEAD CIRCUMFERENCE; HUMAN; HYPSARRHYTHMIA; INFANTILE SPASM; MALE; MEF2C GENE; MICROCEPHALY; NBPF22F GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; RASA1 GENE;

ABNORMALITIES, MULTIPLE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 5; CORPUS CALLOSUM; HUMANS; INFANT; MADS DOMAIN PROTEINS; MAGNETIC RESONANCE IMAGING; MALE; MICROCEPHALY; MYOGENIC REGULATORY FACTORS; SPASM;

EID: 84865568211     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35490     Document Type: Article

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