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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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Main Authors: | , , , , , , , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Oxford University Press
2009
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Assuntos: | |
Acesso em linha: | 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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