Severe marfan syndrome due to FBN1 exon deletions

American Journal of Medical Genetics, Part A

Volumn 146, Issue 10, 2008, Pages 1320-1324

  Blyth, Moira ^a,c   Foulds, Nicola ^a   Turner, Claire ^a   Bunyan, David ^b  

^a Wessex Clinical Genetics Service   (United Kingdom)

^b WESSEX REGIONAL GENETICS LABORATORY   (United Kingdom)

^c PRINCESS ANNE HOSPITAL   (United Kingdom)

Author keywords

Exon deletions; FBN1; Marfan syndrome; Mosaicism

Indexed keywords

FIBRILLIN 1;

ARTICLE; CASE REPORT; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MARFAN SYNDROME; MOSAICISM; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL;

CHILD, PRESCHOOL; EXONS; FEMALE; GENE DELETION; HUMANS; INFANT; MARFAN SYNDROME; MICROFILAMENT PROTEINS; SEVERITY OF ILLNESS INDEX;

EID: 43049138393     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32229     Document Type: Article

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