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Two patients with ‘Dropped head syndrome’ due to mutations in LMNA or SEPN1 genes

✍ Scribed by A. D'Amico; G. Haliloglu; P. Richard; B. Talim; S. Maugenre; A. Ferreiro; P. Guicheney; I. Menditto; S. Benedetti; E. Bertini; G. Bonne; H. Topaloglu


Book ID
116792317
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
278 KB
Volume
15
Category
Article
ISSN
0960-8966

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Mutations in the gene encoding fibrillin-1 (FBN1) cause Marfan syndrome (MFS) and other related connective tissue disorders. In this study we performed SSCP to analyze all 65 exons of the FBN1 gene in 76 patients presenting with classical MFS or related phenotypes. We report 7 missense mutations, 3