The clinical spectrum of complete FBN1 allele deletions

European Journal of Human Genetics

Volumn 19, Issue 3, 2011, Pages 247-252

  Hilhorst Hofstee, Yvonne ^a   Hamel, Ben C J ^b   Verheij, Joke B M ^c   Rijlaarsdam, Marry E B ^a   Mancini, Grazia M S ^d   Cobben, Jan M ^e   Giroth, Cindy ^a   Ruivenkamp, Claudia A L ^a   Hansson, Kerstin B M ^a   Timmermans, Janneke ^b   Moll, Henriette A ^d   Breuning, Martijn H ^a   Pals, Gerard ^f  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^d ERASMUS MEDICAL CENTER   (Netherlands)

^e ACADEMIC MEDICAL CENTER   (Netherlands)

^f VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

deletion; FBN1; fibrillin 1; haploinsufficiency; Marfan syndrome

Indexed keywords

FIBRILLIN 1;

ADULT; ALLELE; AORTA ROOT; AORTIC ROOT SURGERY; ARACHNODACTYLY; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; ECTOPIA LENTIS; FEMALE; FUNNEL CHEST; GENE DELETION; HUMAN; JOINT HYPERMOBILITY; LONG PHILTRUM; MALE; MARFAN SYNDROME; MITRAL VALVE PROLAPSE; PHENOTYPE; PRIORITY JOURNAL; PROGNATHIA; SCOLIOSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; ALLELES; CHILD; CHILD, PRESCHOOL; CYSTEINE; ECTOPIA LENTIS; FEMALE; HAPLOINSUFFICIENCY; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MITRAL VALVE PROLAPSE; MUTATION; PHENOTYPE; SEQUENCE DELETION; YOUNG ADULT;

EID: 79951809483     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.174     Document Type: Article

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