A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13

Clinical Genetics

Volumn 67, Issue 2, 2005, Pages 183-188

  Zaidi, Syed H E ^a   Peltekova, V ^b   Meyer, S ^c   Lindinger, A ^c   Paterson, A D ^d,e   Tsui, L C ^d,f   Faiyaz Ul Haque, M ^d   Teebi, A S ^d  

^a TORONTO GENERAL HOSPITAL   (Canada)

^b MOUNT SINAI HOSPITAL   (Canada)

^c SAARLAND UNIVERSITY   (Germany)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

^e UNIVERSITY OF TORONTO   (Canada)

^f UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

Arterial tortuosity; Connective tissue disorder; Ehlers Danlos syndrome; Homozygosity mapping

Indexed keywords

GALACTOSYLTRANSFERASE; GENE PRODUCT; PROTEIN B4GALT5; PROTEIN KCNB1; PROTEIN PTGIS; UNCLASSIFIED DRUG;

ANGIOGRAPHY; AORTA ANOMALY; ARTERY MALFORMATION; ARTERY TORTUOSITY SYNDROME; ARTICLE; CAROTID ARTERY ANOMALY; CASE REPORT; CHROMOSOME 20Q; CONTROLLED STUDY; DNA EXTRACTION; EHLERS DANLOS SYNDROME; GENE EXPRESSION REGULATION; GENE FREQUENCY; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HERNIA; HOMOZYGOSITY; HUMAN; INFANT; JOINT HYPERMOBILITY; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE ANALYSIS; SYMPTOMATOLOGY; TANDEM REPEAT;

ANGIOGRAPHY; ARTERIES; CHROMOSOMES, HUMAN, PAIR 20; DNA MUTATIONAL ANALYSIS; EHLERS-DANLOS SYNDROME; GENE EXPRESSION PROFILING; HAPLOTYPES; HUMANS; INFANT; MALE; MICROSATELLITE REPEATS; PEDIGREE; PROMOTER REGIONS (GENETICS); REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TANDEM REPEAT SEQUENCES;

EID: 14244261467     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2004.00391.x     Document Type: Article

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