Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia-Reference-Cited by-同舟云学术

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Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia

Published:2016-12-14 Issue:24 Volume:8 Page:39695-39702
ISSN:1949-2553
Container-title:Oncotarget
language:en
Short-container-title:Oncotarget

Author:

Banerjee Santasree¹,Lei Dongzhu²,Liang Shengran¹,Yang Li³,Liu Saijun¹,Wei Zhu⁴,Tang Jian Ping⁴

Affiliation:

1. BGI-Shenzhen, Shenzhen, China

2. Center of Prenatal Diagnosis, ChenZhou No.1 peoples hospital, Hunan, China

3. Biological therapy center, The Third Affiliated Hospital, Sun-Yet-San University, Guangzhou, China

4. Department of dermatology, Hunan Children's Hospital, Hunan, China

Publisher

Impact Journals, LLC

Subject

Oncology

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1. The genetic spectrum ofNF1variants in 10 unrelated Chinese families with neurofibromatosis type 1;Neurosciences;2024-07

2. Mutational Spectrum and Genotype-phenotype Correlations in Neurofibromatosis Type 1 Patients from North Macedonia: Identification of Ten Novel NF1 Pathogenic Variants;Balkan Medical Journal;2023-07-12

3. Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1;BMC Medical Genomics;2023-04-24

4. Identifying a novel frameshift pathogenic variant in a Chinese family with neurofibromatosis type 1 and review of literature;International Journal of Ophthalmology;2023-01-18

5. NF1 Gene Novel Splicing Mutations in a Chinese Family with Neurofibromatosis Type 1: Case Series;Clinical, Cosmetic and Investigational Dermatology;2022-10

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