Article
Convergent biological pathways underlying the Kallmann syndrome-linked genes Hs6st1 and Fgfr1.
Human molecular genetics - 16 Dec 2022
Moon Sohyun, Zhao Ying-Tao
Abstract excerpt
Kallmann syndrome (KS) is a congenital disorder characterized by idiopathic hypogonadotropic hypogonadism and olfactory dysfunction. KS is linked to variants in >34 genes, which are scattered across the human genome and show disparate biological functions. Although the genetic basis of KS is well studied, the mechanisms by which disruptions of these diverse genes cause the same outcome of KS are not fully...
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