Article
Kallmann syndrome.
European journal of human genetics : EJHG - 1 Feb 2009
Dodé Catherine, Hardelin Jean-Pierre
Abstract excerpt
The Kallmann syndrome (KS) combines hypogonadotropic hypogonadism (HH) with anosmia. This is a clinically and genetically heterogeneous disease. KAL1, encoding the extracellular glycoprotein anosmin-1, is responsible for the X chromosome-linked recessive form of the disease. Mutations in FGFR1 or FGF8, encoding fibroblast growth factor receptor-1 and fibroblast growth factor-8, respectively, underlie an autosomal...
Topics
- Extracellular Matrix Proteins
- Female
- Humans
- Kallmann Syndrome
- Male
- Mutation
- Nerve Tissue Proteins