Systemic Pseudohypoaldosteronism Type 1 due to 3 Novel Mutations in < b > < i > SCNN1A < /i > < /b > and < b > < i > SCNN1B < /i > < /b > Genes
Conclusion: PHA1 should be considered at differential diagnosis in patients presenting with hyponatremia, hyperkalemia, and metabolic acidosis. The cases in this report involving 4 novel variants will add valuable insights into the phenotype-genotype relationship and will expand the mutation database.Horm Res Paediatr
Source: Hormone Research in Paediatrics - Category: Endocrinology Source Type: research
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