Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity

Journal of Human Genetics

Volumn 57, Issue 12, 2012, Pages 804-806

  Miyatake, Satoko ^a   Touho, Hajime ^b   Miyake, Noriko ^a   Ohba, Chihiro ^a   Doi, Hiroshi ^a   Saitsu, Hirotomo ^a   Taguri, Masataka ^c   Morita, Satoshi ^c   Matsumoto, Naomichi ^a  

^a YOKOHAMA CITY UNIVERSITY   (Japan)

^b Touho Neurosurgical Clinic   (Japan)

^c YOKOHAMA CITY UNIVERSITY MEDICAL CENTER   (Japan)

Author keywords

cerebrovascular disease; gene dose effect; moyamoya disease; RNF213; sibling cases

Indexed keywords

PROTEIN; RNF213 PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BRAIN DAMAGE; BRAIN HEMORRHAGE; BRAIN INFARCTION; CASE REPORT; DISEASE COURSE; DISEASE SEVERITY; FEMALE; GENETIC VARIABILITY; HEADACHE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MOYAMOYA DISEASE; NEUROLOGIC DISEASE; ONSET AGE; PARESIS; RANKIN SCALE; SEIZURE; TRANSIENT ISCHEMIC ATTACK; VASCULAR DISEASE; VISUAL DISORDER;

ADOLESCENT; ADULT; AGE OF ONSET; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MOYAMOYA DISEASE; NERVOUS SYSTEM DISEASES; PEDIGREE; PHENOTYPE; POLYMORPHISM, GENETIC; SIBLINGS; UBIQUITIN-PROTEIN LIGASES; VASCULAR DISEASES; YOUNG ADULT;

EID: 84871514542     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2012.105     Document Type: Article

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