A Novel Heterozygous NF1 Variant in a Neurofibromatosis-Noonan Syndrome Patient with Growth Hormone Deficiency: A Case Report

• Główni autorzy: Si Qin (Autor), Yindi Zhang (Autor), Fadong Yu (Autor), Yinxing Ni (Autor), Jian Zhong (Autor)
• Format: Książka
• Wydane: Galenos Yayincilik, 2023-12-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

Neurofibromatosis-Noonan syndrome (NFNS), a rare autosomal-dominant hereditary disease, is characterized by clinical manifestations of both neurofibromatosis type 1 (NF1) and NS. We present a case of NFNS with short stature caused by a heterozygous nonsense variant of the NF1 gene. A 12-year-old boy...