CDB25:0004266 SEMA3G — PLXNA1
Experimentally validated in Human; Orthology-inferred in Mouse, Rat, Frog, Zebrafish, Chicken, Macaque, Pig, Dog, Cow, Chimp, Horse, Marmoset, Sheep
Title
Journal:; Year Published:
Abstract
A Novel SEMA3G Mutation in Two Siblings Affected by Syndromic GnRH Deficiency.
Neuroendocrinology, 2021; PubMed, Homo sapiens SEMA3G — Homo sapiens PLXNA1
ABSTRACT: Gonadotropin-releasing hormone (GnRH) deficiency causes hypogonadotropic hypogonadism (HH), a rare genetic disorder that impairs sexual reproduction. HH can be due to defective GnRH-secreting neuron development or function and may be associated with other clinical signs in overlapping genetic syndromes. With most of the cases being idiopathic, genetics underlying HH is still largely unknown.