AUTOSOMAL RECESSIVE PSEUDOHYPOALDOSTERONISM TYPE I (PHA-I) WITH CONGENITAL GLAUCOMA & DIMINISHED IMMUNOGLOBULINS: EXPANDING THE PHENOTYPE.577
نویسندگان
چکیده
منابع مشابه
Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point
KEY 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.
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1996
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-199604001-00598