Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1

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...

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Auteurs principaux: Sabbagh, Audrey, Pasmant, Eric, Laurendeau, Ingrid, Parfait, Béatrice, Barbarot, Sébastien, Guillot, Bernard, Combemale, Patrick, Ferkal, Salah, Vidaud, Michel, Aubourg, Patrick, Vidaud, Dominique, Wolkenstein, Pierre
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2009
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Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2722187/
https://ncbi.nlm.nih.gov/pubmed/19417008
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp212
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