Aldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis
Objective. Aldosterone synthase deficiency (ASD) is a rare, autosomal recessive inherited disease with an overall clinical phenotype of failure to thrive, vomiting, severe dehydration, hyperkalemia, and hyponatremia. Mutations in the CYP11B2 gene encoding aldosterone synthase are responsible for the...
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| Autores principales: | , , , , , |
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| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Sciendo
2020
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/989eb46130b54d04aed1020580a68511 |
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