A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts

American Journal of Medical Genetics, Part A

Volumn 170, Issue 4, 2016, Pages 1059-1063

  Ha, Thuong T ^a   Sadleir, Lynette G ^b   Mandelstam, Simone A ^c,d   Paterson, Sarah J ^b   Scheffer, Ingrid E ^c,d,e   Gecz, Jozef ^a,f   Corbett, Mark A ^a,f  

^a UNIVERSITY OF ADELAIDE   (Australia)

^b UNIVERSITY OF OTAGO WELLINGTON   (New Zealand)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d FLOREY INSTITUTE OF NEUROSCIENCE AND MENTAL HEALTH   (Australia)

^e ROYAL CHILDREN'S HOSPITAL   (Australia)

^f UNIVERSITY OF ADELAIDE   (Australia)

Author keywords

Autosomal dominant; Cataracts; COL4A1; COL4A2; Epilepsy; Porencephaly

Indexed keywords

COLLAGEN TYPE 4; GLYCINE; COL4A2 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRAIN VENTRICLE DILATATION; CASE REPORT; CATARACT; CAUDATE NUCLEUS; COL4A2 GENE; CONTROLLED STUDY; CORPUS CALLOSUM; ELECTROENCEPHALOGRAM; EXOME; EXTERNAL CAPSULE; FAMILIAL DISEASE; FEMALE; FOCAL EPILEPSY; GENE MAPPING; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; GLIOSIS; HEMIPLEGIA; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOPLEGIA; PATHOGENICITY; PHENOTYPE; PORENCEPHALY; PRIORITY JOURNAL; QUADRIPLEGIA; TRIPLE HELIX; WHITE MATTER LESION; BRAIN; DOMINANT GENE; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; PATHOLOGY; PEDIGREE;

ADOLESCENT; ADULT; AGED; BRAIN; CATARACT; COLLAGEN TYPE IV; EXOME; FEMALE; GENES, DOMINANT; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PEDIGREE; PORENCEPHALY;

EID: 84961207422     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37527     Document Type: Article

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