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Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point.

AbstractKEY CLINICAL MASSAGE:
We present a 27-month-old male infant with pseudohypoaldosteronism, with two novel α-subunits, epithelial sodium channel (ENaC) mutations. Despite the presence of the ENaC in the lungs, kidneys, and exocrine glands, he continues to only have renal and exocrine involvement, stressing differential effects of the mutation in each organ.
AuthorsGunjeet Kala Ahluwalia, Majed Dasouki, Angela Lennon
JournalClinical case reports (Clin Case Rep) Vol. 2 Issue 6 Pg. 326-30 (Dec 2014) ISSN: 2050-0904 [Print] England
PMID25548639 (Publication Type: Case Reports)

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