Clinical spectrum of type IV collagen (COL4A1) mutations: A novel genetic multisystem disease

Current Opinion in Neurology

Volumn 24, Issue 1, 2011, Pages 63-68

  Vahedi, Katayoun ^a   Alamowitch, Sonia ^b,c  

^a HÔPITAL LARIBOISIÈRE   (France)

^b HÔPITAL TENON   (France)

^c SORBONNE UNIVERSITÉ   (France)

Author keywords

aneurysm; COL4A1; collagen type IV; intracerebral haemorrhage; nephropathy; porencephaly; retinal arteriolar tortuosities

Indexed keywords

COLLAGEN TYPE 4; COLLAGEN TYPE 4A1; UNCLASSIFIED DRUG;

ANEURYSM; BASEMENT MEMBRANE; BRAIN DISEASE; BRAIN HEMORRHAGE; GENE MUTATION; GENETIC COUNSELING; GENETIC DISORDER; GENETIC SCREENING; GENOTYPE ENVIRONMENT INTERACTION; GLOMERULUS BASEMENT MEMBRANE; HANAC SYNDROME; HEMIPARESIS; HUMAN; INTRACRANIAL ANEURYSM; KIDNEY DISEASE; LEUKOENCEPHALOPATHY; MUSCLE CRAMP; NEUROIMAGING; NEURORADIOLOGY; OPTIC NERVE DISEASE; PHENOTYPE; PHENOTYPIC VARIATION; PORENCEPHALY; RETINA HEMORRHAGE; REVIEW; SECONDARY GLAUCOMA; VASCULAR DISEASE;

ADULT; CHILD; COLLAGEN TYPE IV; ENVIRONMENT; GENETIC COUNSELING; GENETIC TESTING; HUMANS; INTRACRANIAL HEMORRHAGES; KIDNEY DISEASES; MUTATION; NERVOUS SYSTEM; NERVOUS SYSTEM DISEASES; PHENOTYPE; RETINAL DISEASES;

EID: 78651387761     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/WCO.0b013e32834232c6     Document Type: Review

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