Browsing Centre for Endocrinology by Subject "kidney disease"

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    • SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency. 

      Settas, N; Persky, R; Faucz, FR; Sheanon, N; Voutetakis, A; Lodish, M; Metherell, LA; Stratakis, CA (Oxford University Press, 2018-12-03)
      Context Multiple autosomal recessive genes have been etiologically linked to Primary Adrenal Insufficiency (PAI). Recently, SGPL1 gene mutations were recognized as causes of steroid-resistant nephrotic syndrome type 14 ...