Article
Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.
Human molecular genetics - 1 Aug 2009
Sabbagh Audrey, Pasmant Eric, Laurendeau Ingrid, Parfait Béatrice, Barbarot Sébastien, Guillot Bernard, Combemale Patrick, Ferkal Salah, Vidaud Michel, Aubourg Patrick, Vidaud Dominique, Wolkenstein Pierre
Abstract excerpt
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder which displays considerable inter- and intra-familial variability in phenotypic expression. To evaluate the genetic component of variable expressivity in NF1, we examined the phenotypic correlations between affected relatives in 750 NF1 patients from 275 multiplex families collected through the NF-France Network. Twelve NF1-related clinical...
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