6p25 microdeletion: White matter abnormalities in an adult patient

American Journal of Medical Genetics, Part A

Volumn 161, Issue 7, 2013, Pages 1686-1689

  Vernon, Hilary J ^a,b   Bytyci Telegrafi, Aida ^a   Batista, Denise ^a,b,c   Owegi, Margaret ^b   Leigh, Richard ^b  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

Axenfeld Reiger; FOXC1; Leukoencephalopathy

Indexed keywords

BETA1A INTERFERON; GLATIRAMER; NATALIZUMAB;

ADULT; ANAMNESIS; ARTICLE; CADASIL; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DELETION 6P25; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DISEASE EXACERBATION; DISEASE SEVERITY; FAMILY HISTORY; FEMALE; HUMAN; IMAGE ANALYSIS; IMAGE PROCESSING; MIGRAINE; MIXED HEARING LOSS; MULTIPLE SCLEROSIS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; WHITE MATTER INJURY;

ADULT; ANTERIOR EYE SEGMENT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 6; EYE ABNORMALITIES; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; HUMANS; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MUTATION; RECEPTORS, NOTCH; SERINE ENDOPEPTIDASES;

EID: 84879460977     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35937     Document Type: Article

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