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Old and New Perspectives on Neurofibromatosis Type 1: Clinical and Molecular Characterization of 832 Patients from a Single Centre over 16 Years.

Stephanie K. L. Ho, Ho-ming Luk,Samuel Y. L. Ng,Kris P. T. Yu,Shirley S. W. Cheng, Phoebe P. Y. Ng,Myth T. S. Mok,Edgar W. L. Hau,Ivan F. M. Lo

European Journal of Medical Genetics（2022）

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关键词
Neurofibromatosis type 1,Genotype-phenotype association,NF1 microdeletion,NF1
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