ESPE Abstracts

ESPE Abstracts

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hrp0098rfc5.3 | Growth and Syndromes | ESPE2024

Neuroradiological Findings in Noonan Syndrome: a multicentric Italian study

Patti Giuseppa , Gabriella Maiorano Nadia , Piccoli Francesca , Grazia Calevo Maria , Tamburrino Federica , Scarano Emanuela , Schiavarello Concetta , Orlandini Eleonora , Pozzobon Gabriella , Baldoli Cristina , Finamore Martina , Grandone Anna , Aiello Francesca , Cirillo Mario , Corica Domenico , Wasniewska Margherita , Cattoni Alessandro , Remida Paolo , Capalbo Donatella , Tortora Fabio , Azzolini Sara , Mansour Mariam , Felicia Faienza Maria , Palladino Stefano , Napoli Flavia , Angelelli Alessia , Di Iorgi Natascia , Rossi Andrea , Maghnie Mohamad , Severino Mariasavina

Background: Data on the neuroradiological findings in Noonan syndrome (NS) are limited.Study Design and participants: Multicentric retrospective observational study conducted in 9 Italian centers of Pediatric Endocrinology. Population includes 112 patients (62 males, 50 females; 73 PTPN11, 8 KRAS, 8 SOS1, 4 LZTR1, 4 RIT1, 4 SHOC2, 3 BRAF, 2 RAF1, 1 ERF, 1 HRAS, 1 MAP2K1, 1 MEK1, 1 PPP1CB, 1 RASA1) with diagnosis of NS ge...
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ESPE Abstracts

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