Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series
Article in Journal of Neurology (November 2023)
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Further case of enlarged spinal nerve roots in KRAS‐related Noonan syndrome
Article in Clinical Genetics (February 2023)
Case report: Clinical manifestations and genotype analysis of a child with PTPN11 and SEC24D mutations
Article in Frontiers in Pediatrics (September 2022)