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Noonan syndrome and Noonan-like syndrome with loose anagen hair: rare phenotypes may emerge during follow-up

1 Jul 2024

Abstract excerpt

Background: Noonan syndrome (NS) and Noonan-like syndrome with loose anagen hair (NS/LAH) are neurodevelopmental syndromes resulting from germline mutations in genes that participate in the rat sarcoma/mitogen-activated protein kinases (RAS/MAPK) pathway. The aim of this retrospective study was to describe common and rare manifestations of NS and NS/LAH. Methods: We collected and analyzed clinical and genetic...

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PMID: 39144424
DOI: 10.21037/tp-24-113

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