Neurofibromatosis type 1 & Related Disorders
作者： Martino Ruggieri , Meena Upadhyaya , Concezio Di Rocco , Annalia Gabriele , Ignacio Pascual-Castroviejo
DOI: 10.1007/978-3-211-69500-5_3
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摘要: The last decades have seen major developments in our knowledge of the different forms neurofibromatosis (Ferner 2007a, b; Ferner et al. 2007; Friedman 1999; Huson and Hughes 1994; Korf Rubenstein 2005; North 1997; Ruggieri Upadhyaya Cooper 1998a). Evidence based clinical diagnostic criteria management guidelines been developed (Baser 2002; Gutman Listernick Charrow 2004a, Maria Wolkenstein 1996). genes for two forms, type 1 (NF1) 2 (NF2), cloned gene products, neurofibromin merlin (also called Schwannomin), respectively, fully characterised (reviewed Baser 2003, 1999, 2005, 1998b).
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