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

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...

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Main Authors:	Mohammed Ayed Huneif (Author), Ziyad Hamad Alhazmy (Author), Anas M. Shoomi (Author), Mohammed A. Alghofely (Author), Humariya Heena (Author), Aziza M. Mushiba (Author), Abdulhamid Alsaheel (Author)
Format:	Book
Published:	Galenos Yayincilik, 2022-06-01T00:00:00Z.
Subjects:	article
Online Access:	Connect to this object online.
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