Ontology highlight
ABSTRACT:
SUBMITTER: Ying H
PROVIDER: S-EPMC7704206 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Ying Hui H Sun Yan Y Wu Huixiao H Jia Wenyu W Guan Qingbo Q He Zhao Z Gao Ling L Zhao Jiajun J Ji Yiming Y Li Guimei G Xu Chao C
Oxidative medicine and cellular longevity 20201121
Some mutations in <i>FGFR1</i> affect the sense of smell while others do not, resulting in Kallmann syndrome (KS) and normosmic isolated hypogonadotropic hypogonadism (nIHH), respectively. The underlying mechanism is still unclear. <i>FGFR1</i> variants are found in less than 10% of patients with KS and nIHH, and among them, only some have undergone functional analysis. Thus, the correlation between the phenotype and genotype cannot be clearly verified. This study reports a case of nIHH and expl ...[more]