Neurological features of Noonan syndrome and related <scp>RASopathies</scp> : Pain and nerve enlargement characterized by nerve ultrasound-Reference-Cited by-同舟云学术

Neurological features of Noonan syndrome and related RASopathies : Pain and nerve enlargement characterized by nerve ultrasound

Published:2022-03-08 Issue:6 Volume:188 Page:1801-1807
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

De Ridder Willem¹^ORCID,Engelen Baziel²,Alfen Nens³

Affiliation:

1. Department of Neurology, Neuromuscular Reference Centre University Hospital of Antwerp Antwerp Belgium

2. Institute Born‐Bunge University of Antwerp Antwerp Belgium

3. Department of Neurology and Clinical Neurophysiology Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center Nijmegen The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62714

Reference30 articles.

1. A Patient with Noonan Syndrome with a KRAS Mutation Who Presented Severe Nerve Root Hypertrophy

2. Recent advances in RASopathies

3. Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship?

4. Noonan syndrome;Bhambhani V.;American Family Physician,2014

5. Cross-sectional area reference values for nerve ultrasonography

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3. Non-Mammalian Models for Understanding Neurological Defects in RASopathies;Biomedicines;2024-04-10

4. The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder;Orphanet Journal of Rare Diseases;2023-07-21

5. Hypertrophic neuropathy: a possible cause of pain in children with Noonan syndrome and related disorders;European Journal of Pediatrics;2023-06-05