Article
The clinical spectrum of complete FBN1 allele deletions.
European journal of human genetics : EJHG - 1 Mar 2011
Hilhorst-Hofstee Yvonne, Hamel Ben C J, Verheij Joke B G M, Rijlaarsdam Marry E B, Mancini Grazia M S, Cobben Jan M, Giroth Cindy, Ruivenkamp Claudia A L, Hansson Kerstin B M, Timmermans Janneke, Moll Henriette A, Breuning Martijn H, Pals Gerard
Abstract excerpt
The most common mutations found in FBN1 are missense mutations (56%), mainly substituting or creating a cysteine in a cbEGF domain. Other mutations are frameshift, splice and nonsense mutations. There are only a few reports of patients with marfanoid features and a molecularly proven complete del...
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