Associated Papers
A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.
Ahmad S et al.
Frontiers in Endocrinology, 2023
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.
Cohen E et al.
Human Mutation, 2019
Partial Loss of Function of the GHRH Receptor Leads to Mild Growth Hormone Deficiency.
Gregory LC et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency.
Godi M et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
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