Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations

LAMM syndrome with middle ear dysplasia

LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations

✍ Alberto Sensi; Stefano Ceruti; Patrizia Trevisi; Francesca Gualandi; Micol Busi; 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 298 KB 👁 2 views

## Abstract 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 r