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- Title
Further case of enlarged spinal nerve roots in KRAS‐related Noonan syndrome.
- Authors
Leoni, Chiara; Viscogliosi, Germana; Onesimo, Roberta; Verdolotti, Tommaso; Biagini, Tommaso; Mazza, Tommaso; De Luca, Alessandro; Perri, Lucrezia; Trevisan, Valentina; Flex, Elisabetta; Tartaglia, Marco; Zampino, Giuseppe
- Abstract
Herein, we report on an individual with molecularly confirmed diagnosis of NS showing asymptomatic enlarged spinal nerve roots, which are distinctive features of neurofibromatosis type 1. 3 Ando Y, Sawada M, Kawakami T, Morita M, Aoki Y. A patient with Noonan syndrome with a KRAS mutation who presented severe nerve root hypertrophy. Noonan syndrome (NS) belongs to RASopathies, a family of disorders caused by unregulated signaling through the RAS-MAPK pathway.
- Subjects
NOONAN syndrome; SPINAL nerve roots; ANATOMICAL planes; WECHSLER Adult Intelligence Scale; HEART abnormalities
- Publication
Clinical Genetics, 2023, Vol 104, Issue 1, p136
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.14308