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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: May 27, 2023. (Total: 217315Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Autosomal Recessive Pseudohypoaldosteronism Type 1[original query]
A Novel SCNN1A Variation in a Patient with Autosomal-recessive Pseudohypoaldosteronism Type 1.
Journal of clinical research in pediatric endocrinology 2021 4 14 (2): 244-250.
Huneif Mohammed Ayed, Alhazmy Ziyad Hamad, Shoomi Anas M., Alghofely Mohammed A., Heena Humariya, Mushiba Aziza M., AlSaheel Abdulham
A mild and transient form of autosomal recessive Pseudohypoaldosteronism type 1 (PHA1) caused by a novel mutation in the SCNN1A gene.
American journal of physiology. Endocrinology and metabolism 2023 5 .
Alexandra Eythymiadou, Ivan Gautschi, Miguel Xavier van Bemmelen, Amalia Sertedaki, Aristeidis Giannakopoulos, George Chrousos, Laurent Schild, Dionisios Chrys
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