Further case of enlarged spinal nerve roots in <i>KRAS</i>‐related Noonan syndrome-Reference-Cited by-同舟云学术

Further case of enlarged spinal nerve roots in KRAS‐related Noonan syndrome

Published:2023-02-21 Issue:1 Volume:104 Page:136-138
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Leoni Chiara¹^ORCID,Viscogliosi Germana¹,Onesimo Roberta¹,Verdolotti Tommaso²,Biagini Tommaso³,Mazza Tommaso³,De Luca Alessandro⁴^ORCID,Perri Lucrezia¹,Trevisan Valentina¹,Flex Elisabetta⁵,Tartaglia Marco⁶^ORCID,Zampino Giuseppe¹⁷

Affiliation:

1. Department of Woman and Child Health and Public Health, Center for Rare Diseases and Birth Defects Fondazione Policlinico Universitario “A. Gemelli” IRCCS Rome (RM) Italy

2. UOC Radiologia e Neuroradiologia, Dipartimento di Diagnostica per Immagini, Radioterapia Oncologica ed Ematologia Fondazione Policlinico Universitario “A. Gemelli” IRCCS Rome (RM) Italy

3. Laboratory of Bioinformatics Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo (FG) Italy

4. Medical Genetics Division IRCCS Fondazione Casa Sollievo della Sofferenza San Giovanni Rotondo (FG) Italy

5. Department of Oncology and Molecular Medicine Istituto Superiore di Sanità Rome (RM) Italy

6. Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Gesù, IRCCS Rome (RM) Italy

7. Università Cattolica del Sacro Cuore Rome (RM) Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14308

Reference8 articles.

1. Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients

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

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

4. Multiple spinal nerve enlargement and SOS1 mutation: Further evidence of overlap between neurofibromatosis type 1 and Noonan phenotype

5. Enlarged spinal nerve roots in RASopathies: Report of two cases

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1. Nerve enlargement in patients with Noonan syndrome: A retrospective cohort study;American Journal of Medical Genetics Part A;2024-07-03

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