Open AccessA Novel Heterozygous NF1 Variant in a Neurofibromatosis-Noonan Syndrome Patient with Growth Hormone Deficiency: A Case Report
Author(s) -
Si Qin,
Yindi Zhang,
Fadong Yu,
Yinxing Ni,
Jianxin Zhong
Publication year - 2023
Publication title -
jcrpe
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.566
H-Index - 35
eISSN - 1308-5735
pISSN - 1308-5727
DOI - 10.4274/jcrpe.galenos.2022.2021-12-24
Subject(s) - medicine , neurofibromatosis , short stature , noonan syndrome , neurofibromatosis type i , growth hormone deficiency , neurofibromin 1 , compound heterozygosity , endocrinology , pathology , mutation , growth hormone , hormone , gene , genetics , biology