Phenotypic and genetic characterization of novel variant in the NF1 gene underlying neurofibromatosis type 1 in five Chinese families

Sci China Life Sci. 2021 Dec;64(12):2206-2209. doi: 10.1007/s11427-020-1922-3. Epub 2021 May 13.

¹ McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, 100005, China.
² The First Affiliated Hospital of XinJiang Medical University, Wulumuqi, 830001, China.
³ Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing, 100072, China.
⁴ McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, 100005, China. [email protected].
⁵ Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing, 100072, China. [email protected].

^# Contributed equally.

No abstract available

Publication types