The expanding phenotype of COL4A1 and COL4A2 mutations: Clinical data on 13 newly identified families and a review of the literature

Genetics in Medicine

Volumn 17, Issue 11, 2015, Pages 843-853

  Meuwissen, Marije E C ^a,b   Halley, Dicky J J ^a   Smit, Liesbeth S ^a   Lequin, Maarten H ^a   Cobben, Jan M ^c   De Coo, Rene ^a   Van Harssel, Jeske ^d   Sallevelt, Suzanne ^e   Woldringh, Gwendolyn ^f   Van Der Knaap, Marjo S ^g   De Vries, Linda S ^d   Mancini, Grazia M S ^a  

^a ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^b ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^e MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Cerebral hemorrhage; COL4A1; COL4A2; familial porencephaly; phenotype

Indexed keywords

AXENFELD RIEGER ANOMALY; BRAIN CALCIFICATION; BRAIN HEMORRHAGE; CEREBROVASCULAR DISEASE; CLINICAL STUDY; COL4A1 GENE; COL4A2 GENE; DNA DETERMINATION; FOLLOW UP; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC COUNSELING; HAPLOINSUFFICIENCY; HUMAN; HYDRANENCEPHALY; LEUKOENCEPHALOPATHY; MISSENSE MUTATION; MUTATION RATE; PERIVENTRICULAR LEUKOMALACIA; PHENOTYPE; PHENOTYPIC VARIATION; PORENCEPHALY; REVIEW; RIEGER SYNDROME; SCHIZENCEPHALY; ABNORMALITIES; ALLELE; ANTERIOR EYE SEGMENT; BRAIN; CEREBRAL HEMORRHAGE; COHORT ANALYSIS; EYE ABNORMALITIES; FAMILY; GENE LOCUS; GENE ORDER; GENETIC ASSOCIATION STUDY; GENETICS; GENOTYPE; LEUKOMALACIA, PERIVENTRICULAR; META ANALYSIS; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PEDIGREE; PROCEDURES;

COL4A1 PROTEIN, HUMAN; COL4A2 PROTEIN, HUMAN; COLLAGEN TYPE 4;

ALLELES; ANTERIOR EYE SEGMENT; BRAIN; CEREBRAL HEMORRHAGE; COHORT STUDIES; COLLAGEN TYPE IV; EYE ABNORMALITIES; FAMILY; GENE ORDER; GENETIC ASSOCIATION STUDIES; GENETIC LOCI; GENOTYPE; HUMANS; LEUKOMALACIA, PERIVENTRICULAR; MAGNETIC RESONANCE IMAGING; MUTATION; PEDIGREE; PHENOTYPE; PORENCEPHALY;

EID: 84947924611     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.210     Document Type: Review

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