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searching for Pseudohypoaldosteronism 8 found (32 total)

SCNN1G (3,401 words) [view diff] exact match in snippet view article find links to article

associated with mutations in the SCNN1G gene. These are: 1. Multisystem pseudohypoaldosteronism, 2. Liddle syndrome, and 3. Cystic fibrosis-like disease. The disease

SCNN1B (3,035 words) [view diff] exact match in snippet view article find links to article

associated with mutations in the SCNN1B gene. These are: 1. Multisystem pseudohypoaldosteronism, 2. Liddle syndrome, and 3. Cystic fibrosis-like disease. The disease

Israel Hanukoglu (3,573 words) [view diff] exact match in snippet view article find links to article

Wolfson Medical Center), identified that a hereditary disease named pseudohypoaldosteronism (PHA) type I encompasses two independent syndromes. Following this

ROMK (1,756 words) [view diff] exact match in snippet view article find links to article

novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism" (PDF). Pediatric Nephrology. 22 (8): 1219–23. doi:10.1007/s00467-007-0468-4

Mineralocorticoid receptor (1,628 words) [view diff] exact match in snippet view article find links to article

in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I". Nature Genetics. 19 (3): 279–81. doi:10.1038/966. PMID 9662404

Epithelial sodium channel (2,827 words) [view diff] exact match in snippet view article find links to article

in sweat. In patients with ENaC mutations that cause systemic pseudohypoaldosteronism type I, the patients can lose a significant amount of Na⁺ ions

List of OMIM disorder codes (18,877 words) [view diff] exact match in snippet view article find links to article

PIEZO1 Pseudohypoaldosteronism type I, autosomal dominant; 177735; NR3C2 Pseudohypoaldosteronism type II; 145260; WNK4 Pseudohypoaldosteronism, type I;

Female infertility (7,114 words) [view diff] exact match in snippet view article find links to article

the endometrium - Implications for fertility in a patient with pseudohypoaldosteronism". The Journal of Steroid Biochemistry and Molecular Biology. 183: