Article
Monozygotic twins with Neurofibromatosis type 1, concordant phenotype and synchronous development of MPNST and metastasis.
BMC cancer - 5 Aug 2010
Melean German, Hernández Alba Marina, Valero María Carmen, Hernández-Imaz Elisabete, Martín Yolanda, Hernández-Chico Concepción
Abstract excerpt
BACKGROUND: Neurofibromatosis type 1 is a common autosomal dominant disorder with full penetrance and variable expression. The condition predisposes individuals to the development of malignant nervous system tumours, most frequently Malignant Peripheral Nerve Sheath Tumours (MPNSTs). Previous studies indicate that genetic factors other than mutations in NF1 may be responsible for the condition's variable...
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