Alexander disease: Report of two unrelated infantile form cases, identified by GFAP mutation analysis and review of literature; the first report from Iran

Iranian Journal of Pediatrics

Volumn 23, Issue 4, 2013, Pages 481-484

  Ashrafi, Mahmoud Reza ^a,b,c   Tavasoli, Alireza ^b,c   Aryani, Omid ^d   Alizadeh, Hooman ^a,c   Houshmand, Massoud ^d,e  

^a TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^d Special Medical Center Iran   (Iran)

^e NATIONAL INSTITUTE OF GENETIC ENGINEERING AND BIOTECHNOLOGY   (Iran)

Author keywords

Alexander disease; Alexander's leukodystrophy; Leukoencephalopathy; Macrocephaly; Megalencephaly

Indexed keywords

GLIAL FIBRILLARY ACIDIC PROTEIN;

ALEXANDER DISEASE; ARTICLE; CASE REPORT; CHILD; DEVELOPMENTAL DISORDER; EXON; GENE MUTATION; GENETIC ANALYSIS; GFAP GENE; HETEROZYGOSITY; HUMAN; IRAN; MACROCEPHALY; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PATIENT REFERRAL; PRESCHOOL CHILD; SEIZURE; SPASTICITY;

EID: 84881061151     PISSN: 20082142     EISSN: 20082150     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

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