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A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.
- Published in:
- Frontiers in Endocrinology, 2023, v. 14, p. 1, doi. 10.3389/fendo.2023.1066182
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- Publication type:
- Article
A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review.
- Published in:
- 2024
- By:
- Publication type:
- Case Study