Three new families with arterial tortuosity syndrome

American Journal of Medical Genetics

Volumn 131 A, Issue 2, 2004, Pages 134-143

  Wessels, Marja W ^a   Catsman Berrevoets, Coriene E ^a   Mancini, Grazia ^a   Breuning, Martijn H ^b   Hoogeboom, Jeanette J M ^a   Stroink, Hans ^c   Frohn Mulder, Ingrid ^a   Coucke, Paul J ^d   De Paepe, Anne ^d   Niermeijer, Martinus F ^a   Willems, Patrick J ^e  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c CPRLab   (Netherlands)

^d GHENT UNIVERSITY HOSPITAL   (Belgium)

^e Genetic Diagnostics Belgium   (Belgium)

Author keywords

Aneurysms; Arterial tortuosity; ATS; Cutis laxa; Elastic fibers; Hyperextensibility; Joint laxity; Pulmonary stenosis

Indexed keywords

ELASTIN; FIBRILLIN 1; FIBRILLIN 2; FIBULIN; PROCOLLAGEN LYSINE 2 OXOGLUTARATE 5 DIOXYGENASE; PROTEIN LYSINE 6 OXIDASE;

ADOLESCENT; ADULT; ANEURYSM; ARACHNODACTYLY; ARTERIOGRAPHY; ARTERY MALFORMATION; ARTERY MEDIA; ARTERY TORTUOSITY SYNDROME; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CARDIOVASCULAR MALFORMATION; CHILD; CLINICAL ARTICLE; CONNECTIVE TISSUE DISEASE; CONSANGUINITY; CONTROLLED STUDY; CUTIS LAXA; DIFFERENTIAL DIAGNOSIS; FACE MALFORMATION; FAMILIAL DISEASE; FEMALE; HEART VENTRICLE HYPERTROPHY; HISTOPATHOLOGY; HUMAN; INFANT; INGUINAL HERNIA; JOINT CONTRACTURE; JOINT LAXITY; MAGNETIC RESONANCE ANGIOGRAPHY; MALE; MOROCCO; PRIORITY JOURNAL; PULMONARY ARTERY STENOSIS; SKIN DISEASE; SKIN HYPEREXTENSIBILITY; SYNDROME;

ABNORMALITIES, MULTIPLE; CARDIOVASCULAR ABNORMALITIES; CONNECTIVE TISSUE; CONSANGUINITY; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOROCCO; PEDIGREE; SYNDROME;

EID: 9644264289     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30272     Document Type: Article

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