Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1-Reference-Cited by-同舟云学术

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Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1

Published:2003-01-01 Issue:1 Volume:112 Page:12-17
ISSN:0340-6717
Container-title:Human Genetics
language:
Short-container-title:Human Genetics

Author:

Upadhyaya Meena,Majounie Elisa,Thompson Peter,Han Song,Consoli Claudia,Krawczak Michael,Cordeiro Isobel,Cooper David

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-002-0840-1.pdf

Cited by 26 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. Different de novo mutations in the NF1 gene in a family with neurofibromatosis type 1;Pediatric Dermatology;2024-09-03

2. Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?;Journal of Medical Genetics;2022-02-04

3. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation;Genetics in Medicine;2021-08

4. A Heterozygous Missense Variant in MAP2K2 in a Stillborn Romagnola Calf with Skeletal-Cardio-Enteric Dysplasia;Animals;2021-06-29

5. Sporadic and Familial Variants in NF1: An Explanation of the Wide Variability in Neurocognitive Phenotype?;Frontiers in Neurology;2020-05-05

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