A Novel SCNN1A Variation in a Patient with Autosomal-recessive Pseudohypoaldosteronism Type 1

• 主要な著者: Mohammed Ayed Huneif (著者), Ziyad Hamad Alhazmy (著者), Anas M. Shoomi (著者), Mohammed A. Alghofely (著者), Humariya Heena (著者), Aziza M. Mushiba (著者), Abdulhamid Alsaheel (著者)
• フォーマット: 図書
• 出版事項: Galenos Yayincilik, 2022-06-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Pseudohypoaldosteronism type 1 (PHA1) is an autosomal-recessive disorder characterized by defective regulation of body sodium (Na) levels. The abnormality results from mutations in the genes encoding subunits of the epithelial Na channel. Patients with PHA1 present in infancy as being in adrenal cri...