Article

Molecular and Clinical Profile of patients referred as Noonan or Noonan-like Syndrome in Greece: a cohort of 86 patients

2022-06-07

Abstract excerpt

Noonan syndrome (NS) is an autosomal dominant disorder characterized by clinical and genetic heterogeneity. It belongs to a wider group of pathologies, Rasopathies, due to the implication of mutations in genes encoding components of the Ras/MAPK signalling pathway. Recording the genetic alterations across populations helps assessing specific features to specific genes which is essential for better disease’s recogn...

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Literature Corpus work: fb459e9b-888d-5a9a-a504-487c91c8c295
DOI: 10.21203/rs.3.rs-1267516/v2

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