Lanean...

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, stre...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Clin Case Rep
Egile Nagusiak: Kala Ahluwalia, Gunjeet, Dasouki, Majed, Lennon, Angela
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Blackwell Publishing Ltd 2014
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4270719/
https://ncbi.nlm.nih.gov/pubmed/25548639
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.129
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!