Ectopia lentis as the presenting and primary feature in Marfan syndrome

American Journal of Medical Genetics, Part A

Volumn 155, Issue 11, 2011, Pages 2661-2668

  Zadeh, Neda ^a   Bernstein, Jonathan A ^a   Niemi, Anna Kaisa ^a   Dugan, Sarah ^a   Kwan, Andrea ^a   Liang, David ^a   Hyland, James C ^c   Hoyme, H Eugene ^b   Hudgins, Louanne ^a   Manning, Melanie A ^a  

^a STANFORD UNIVERSITY   (United States)

^b Sanford University   (United States)

^c Connective Tissue Gene Tests Molecular Diagnostic Laboratory ^*  (United States)

Author keywords

Aortic root dilatation; Cardiac surveillance; Ectopia lentis; FBN1; Fibrillin 1; Ghent criteria; Marfan syndrome

Indexed keywords

CYSTEINE;

5' UNTRANSLATED REGION; ADOLESCENT; ADULT; ARTICLE; CARDIAC IMAGING; CARDIOVASCULAR RISK; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ECTOPIA LENTIS; EXON; FEMALE; FIBRILLIN 1 GENE; GENE LOCATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HEART VALVE PROLAPSE; HUMAN; MALE; MARFAN SYNDROME; MISSENSE MUTATION; MUTATIONAL ANALYSIS; MUTATOR GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ADULT; CARDIOVASCULAR DISEASES; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ECTOPIA LENTIS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC TESTING; GENOME, HUMAN; HUMANS; INFANT; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION, MISSENSE; PEDIGREE; RETROSPECTIVE STUDIES; RISK FACTORS; YOUNG ADULT;

EID: 80054961159     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34245     Document Type: Article

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