Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome

Clinical Genetics

Volumn 72, Issue 3, 2007, Pages 188-198

  De Backer, Julie ^a   Loeys, B ^a   Leroy, B ^a   Coucke, P ^a   Dietz, C ^b   De Paepe, A ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

Ddiagnostic criteria; Fibrillin 1 gene; Intrafamilial variability; Marfan syndrome

Indexed keywords

FIBRILLIN 1;

ADOLESCENT; ADULT; ALLELE; ANAMNESIS; ARTICLE; CHILD; CLINICAL EXAMINATION; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; EHLERS DANLOS SYNDROME; FAMILY HISTORY; FAMILY STUDY; FEMALE; FOLLOW UP; GEL ELECTROPHORESIS; GENE EXPRESSION PROFILING; GENETIC ANALYSIS; GENETIC VARIABILITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; KYPHOSCOLIOSIS; MAJOR CLINICAL STUDY; MALE; MARFAN SYNDROME; MOLECULAR MECHANICS; MUTATIONAL ANALYSIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RELATIVE; RISK ASSESSMENT; SINGLE STRAND CONFORMATION POLYMORPHISM; TIME; WEILL MARCHESANI SYNDROME;

ADULT; AGED; AGED, 80 AND OVER; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MIDDLE AGED; PEDIGREE; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; VARIATION (GENETICS);

EID: 34548133577     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00845.x     Document Type: Article

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