Associated Papers
Functional properties of the γ-ENaC-A635V mutation in a patient with severe hyponatremia.
Antoniadi M et al.
Hormones (athens, Greece), 2025
Novel sonic hedgehog gene variant in a patient with hyponatremia, microsomia, and midline defects; phenotype description in association with a variant of unknown significance [c.755_757del p.(Phe252del)] and an approach to salt-wasting in SHH-related adrenal disorders.
Antoniadi M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2023
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