Article
LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations.
American journal of medical genetics. Part A - 1 May 2011
Sensi Alberto, Ceruti Stefano, Trevisi Patrizia, Gualandi Francesca, Busi Micol, Donati Ilaria, Neri Marcella, Ferlini Alessandra, Martini Alessandro
Abstract excerpt
We report on the first cases of FGF3 compound heterozygotes in two European families from non-consanguineous marriages, affected with labyrinthine aplasia, microtia, and microdontia (LAMM) Syndrome. Three not previously described mutations (p.W153VfsX51, p.Y106C, and p.Y49C) and a recurrent one (p.R104X) were found. Analysis of 50 unrelated control subjects (100 chromosomes) of the same European background did...
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