Old and new perspectives on Neurofibromatosis type 1: Clinical and molecular characterization of 832 patients from a single centre over 16 years-Reference-Cited by-同舟云学术

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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

Published:2022-04 Issue:4 Volume:65 Page:104474
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Ho Stephanie KL.^ORCID,Luk Ho-ming,Ng Samuel YL.,Yu Kris PT.,Cheng Shirley SW.,Ng Phoebe PY.,Mok Myth TS.,Hau Edgar WL.,Lo Ivan FM.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference34 articles.

1. Racial/ethnic differences in Pediatric brain tumor diagnoses in patients with neurofibromatosis type 1;Abadin;J. Pediatr.,2015

2. Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation;Ben-Shachar;Eur. J. Hum. Genet.,2013

3. Epilepsy in NF1: a systematic review of the literature;Bernardo;Childs Nerv Syst,2020

4. Genotype-phenotype Associations in patients with type-1, type-2, and atypical NF1 microdeletions;Buki;Front. Genet.,2021

5. Focal areas of High signal intensity in children with neurofibromatosis type 1: expected evolution on MRI;Calvez;AJNR Am. J. Neuroradiol.,2020

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2024-07-18

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