Associated Papers
Severe Nerve Enlargement in SOS2-Related Noonan Syndrome.
Leenders E et al.
American Journal of Medical Genetics. Part A, 2025
Yield of RASopathy Gene Panel in Karyotype-Normal or Microarray-Normal Fetuses With Increased Nuchal Translucency: A Systematic Review and Meta-Analysis.
Powel JE et al.
O&g Open, 2025
Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.
Al-Saei O et al.
Bmc Genomics, 2024
Lymphatic Phenotype of Noonan Syndrome: Innovative Diagnosis and Possible Implications for Therapy.
Kleimeier LER et al.
Journal of Clinical Medicine, 2022
Cardiovascular Abnormalities and Gene Mutations in Children With Noonan Syndrome.
Sun L et al.
Frontiers in Genetics, 2022
SOS2 Comes to the Fore: Differential Functionalities in Physiology and Pathology.
Baltanás FC et al.
International Journal of Molecular Sciences, 2021
First prenatal case of Noonan syndrome with SOS2 mutation: Implications of early diagnosis for genetic counseling.
Gentile M et al.
American Journal of Medical Genetics. Part A, 2021
Mutation and Phenotypic Spectrum of Patients With RASopathies.
Lallar M et al.
Indian Pediatrics, 2021
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications.
Lissewski C et al.
European Journal of Human Genetics : Ejhg, 2021
A report on a girl of Noonan syndrome 9 presenting with bilateral lower limbs lymphedema.
Ding Y et al.
Chinese Medical Journal, 2019
Expansion of the RASopathies.
Tidyman WE et al.
Current Genetic Medicine Reports, 2016
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