Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations

Clinical Genetics

Volumn 86, Issue 6, 2014, Pages 552-557

  Pees, C ^a,b   Michel Behnke, I ^a,b   Hagl, M ^a   Laccone, F ^a  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b ST ANNA CHILDREN S HOSPITAL   (Austria)

Author keywords

FBN1; Genotype; Loeys Dietz syndrome; Marfan syndrome; Phenotype; TGFBR

Indexed keywords

FIBRILLIN 1; GENOMIC DNA; ACTIN BINDING PROTEIN; FIBRILLIN; PROTEIN SERINE THREONINE KINASE; TGF-BETA TYPE I RECEPTOR; TRANSFORMING GROWTH FACTOR BETA RECEPTOR; TRANSFORMING GROWTH FACTOR-BETA TYPE II RECEPTOR;

ADOLESCENT; ADULT; AORTA DISEASE; AORTA DISSECTION; AORTA VALVE REPLACEMENT; AORTIC ROOT DILATATION; ARTERY DILATATION; ARTICLE; CARDIAC RESYNCHRONIZATION THERAPY; CHILD; ECTOPIA LENTIS; EXON; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTRON; LOEYS DIETZ SYNDROME; MAJOR CLINICAL STUDY; MALE; MARFAN SYNDROME; MISSENSE MUTATION; MITRAL VALVE REGURGITATION; MUTATION; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; TRICUSPID VALVE REGURGITATION; YOUNG ADULT; GENETICS; INFANT; LOEYS-DIETZ SYNDROME; PEDIGREE; PHENOTYPE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; EXONS; FEMALE; HUMANS; INFANT; LOEYS-DIETZ SYNDROME; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION; PEDIGREE; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; YOUNG ADULT;

EID: 84937511209     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12314     Document Type: Article

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