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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, Vitoratou DI, Marinou M, Fafoula O, Mylona F, Palaiologou D, Leandros L, Kostaridou S. Antoniadi M, et al. Among authors: fafoula o. J Pediatr Endocrinol Metab. 2023 Apr 27;36(6):608-613. doi: 10.1515/jpem-2023-0015. Print 2023 Jun 27. J Pediatr Endocrinol Metab. 2023. PMID: 37184081