Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)
Volume 96 | IMPE2023

IMPE 2023

Buenos Aires, Argentina
04 Mar 2023 - 07 Mar 2023

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11th International Meeting of Pediatric Endocrinology (IMPE 2023). 4 -7 March 2023 - Buenos Aires, Argentina.

New Perspectives

New perspectives in endocrine syndromes

impe0096np1.2 | New perspectives in endocrine syndromes | IMPE2023

Genotype-based management for Noonan syndrome

Aoki Yoko

RASopathies are a group of phenotypically overlapping syndromes caused by mutations that encode molecules of the Ras/MAPK signaling pathway. These disorders include: 1) Noonan syndrome caused by mutations in PTPN11, SOS1, RAF1, KRAS, BRAF and NRAS; 2) Noonan syndrome with multiple lentigines (NSML) caused by mutations in PTPN11, RAF1 and BRAF; 3) Costello syndrome caused by oncogenic mutations in HRAS; 4) cardio-facio-cutaneous (CFC) syndrome caused ...