Characterization of Two Loss-of-Function NF1 Variants in Chinese Patients and Potential Molecular Interpretations of Phenotypes

Neurofibromatosis type 1 (NF1) is a common genetic disorder characterized by cafe’-au-lait spots, skinfold freckles, the formation of neurofibromas, skeletal dysplasia, vascular dysplasia, and an increased risk of malignant tumors. In this study, two Chinese NF1 children troubled with bone lesions o...

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Detalles Bibliográficos
Autores principales: Zhang, Tingting, Han, Tianting, Dong, Zhiya, Li, Chuanyin, Lu, Wenli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8144720/
https://www.ncbi.nlm.nih.gov/pubmed/34046057
http://dx.doi.org/10.3389/fgene.2021.660592

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8144720/
https://www.ncbi.nlm.nih.gov/pubmed/34046057
http://dx.doi.org/10.3389/fgene.2021.660592

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