Associated Papers
Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD).
McCabe MJ et al.
Molecular and Cellular Endocrinology, 2015
A novel KAL1 mutation is associated with combined pituitary hormone deficiency.
Takagi M et al.
Human Genome Variation, 2014
Responsiveness to a physiological regimen of GnRH therapy and relation to genotype in women with isolated hypogonadotropic hypogonadism.
Abel BS et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Expanding the phenotype and genotype of female GnRH deficiency.
Shaw ND et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
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