Spinal Neurofibromatosis without Café-au-Lait Macules in Two Families with Null Mutations of the NF1 Gene

Spinal neurofibromatosis (SNF) is considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors and café-au-lait macules. Involvement of the neurofibromatosis type 1 (NF1) locus has been demonstrated, by linkage analysis, for three families with SNF. In one of them, a cos...

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Main Authors: Kaufmann, Dieter, Müller, Ralf, Bartelt, Britta, Wolf, Michael, Kunzi-Rapp, Karin, Hanemann, Clemens Oliver, Fahsold, Raimund, Hein, Christian, Vogel, Walther, Assum, Günter
Format: Artigo
Jezik:Inglês
Izdano: The American Society of Human Genetics 2001
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Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1235551/
https://ncbi.nlm.nih.gov/pubmed/11704931
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