Article
Noonan syndrome: rhGH treatment and PTPN11 mutation.
Molecular genetics & genomic medicine - 1 Nov 2023
Wu Xian, Wu Jiali, Yuan Yi, Yang Li, Yu Lirong
Abstract excerpt
OBJECTIVE: To analyze the clinical data and genetic characteristics of Noonan syndrome, both the effect and side effects of recombinant human growth hormone (rhGH) treatment. METHODS: We collected clinical data from 8 children with Noonan syndrome diagnosed from November 2017 to June 2021. The diagnosis was clarified by exome second-generation sequencing and parental PCR-NGS validation and interpretation of the...
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