A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicism期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicism

Authors:	Fernández-Rodríguez Juana Castellsagué Joan Benito Llúcia Benavente Yolanda Capellá Gabriel Blanco Ignacio Serra Eduard Lázaro Conxi

Affiliation:	Hereditary Cancer Program, Genetic Diagnosis Unit, Institut Català d'Oncologia, Badalona, Barcelona, Spain.

Abstract:

Keywords:	NF1 mosaicism genotype–phenotype splicing
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