A new family with autosomal dominant porencephaly with a novel COL4A1 mutation. Are arachnoid cysts related to COL4A1 mutations?

Genetic Counseling

Volumn 23, Issue 2, 2012, Pages 185-193

  Degerliyurt A ^a   Ceylaner, G ^b   Kocak H ^c   Bilginer Gurbuz B ^a   Cihan, B S ^a   Rizzu, P ^d   Ceylaner, Serdar ^b  

^a Diskapi Children's Hospital   (Turkey)

^b Intergen Genetics Centre   (Turkey)

^c SB Ankara Diskapi Children's Hospital   (Turkey)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Arachnoid cyst; Col4A1; Mutation; Porencephaly

Indexed keywords

ANTICONVULSIVE AGENT; COLLAGEN TYPE 4; COLLAGEN TYPE 4 ALPHA 1; GENOMIC DNA; METHYLENETETRAHYDROFOLATE DEHYDROGENASE; UNCLASSIFIED DRUG;

ADULT; ANTICONVULSANT THERAPY; ARACHNOID CYST; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHILD; ECHOGRAPHY; EPILEPSY; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GRAND MAL SEIZURE; HEMIPARESIS; HETEROZYGOTE; HUMAN; KIDNEY HYPERTROPHY; MALE; MOTHER; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PORENCEPHALY; PRESCHOOL CHILD; SIBLING;

ADULT; ARACHNOID CYSTS; CEREBELLAR DISEASES; CEREBELLUM; CHILD, PRESCHOOL; COLLAGEN TYPE IV; FEMALE; HUMANS; INFANT; MALE; MUTATION;

EID: 84864460675     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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