Cerebrovasculopathy in NF1 associated with ocular and scalp defects

American Journal of Medical Genetics, Part A

Volumn 155, Issue 2, 2011, Pages 380-385

  Smith, Matt ^a   Heran, Manraj K S ^a,b   Connolly, Mary B ^a,b   Heran, Harindar K ^a,b   Friedman, J M ^a   Jett, Kimberly ^a   Lyons, Christopher J ^a,b   Steinbok, Paul ^a,b   Armstrong, Linlea ^a,b  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b CHILDREN S AND WOMEN S HEALTH CENTRE OF BRITISH COLUMBIA   (Canada)

Author keywords

Cutis aplasia; Neurofibromatosis 1; Peters anomaly; Prenatal; Vasculopathy

Indexed keywords

ARTICLE; ATTENTION DEFICIT DISORDER; CASE REPORT; CEREBROVASCULAR DISEASE; CEREBROVASCULOPATHY; CHILD; COMPUTED TOMOGRAPHIC ANGIOGRAPHY; CORNEA OPACITY; CYTOGENETICS; EXON; EYE EXAMINATION; FEMALE; FOLLOW UP; GENETIC ANALYSIS; HEMIPARESIS; HUMAN; KARYOTYPE 46,XX; MIDDLE CEREBRAL ARTERY OCCLUSION; MISSENSE MUTATION; MOYAMOYA DISEASE; NEUROFIBROMATOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; SCALP; SKIN APLASIA;

ANTERIOR EYE SEGMENT; CEREBRAL ANGIOGRAPHY; CORNEAL OPACITY; CYTOGENETIC ANALYSIS; EYE ABNORMALITIES; FEMALE; HUMANS; INFANT; MOYAMOYA DISEASE; NEUROFIBROMATOSIS 1; SCALP; TOMOGRAPHY, X-RAY COMPUTED;

EID: 79251492391     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33788     Document Type: Article

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