Fatal outcome of autosomal recessive polycystic kidney disease in neonates with recessive PKHD1 mutations

Jung, J; Seo, GH; Kim, YM; Han, YM; Park, JK; Kim, GH; Lee, JH; Park, YS; Lee, BS; Kim, EAR; Lee, PR; Lee, BH

Lee, BH (corresponding author), Univ Ulsan, Med Genet Ctr, Asan Med Ctr, Dept Pediat,Coll Med, 88 Olymp Ro 43-gil, Seoul 05505, South Korea.

MEDICINE, 2020; 99 (19):

Abstract

Autosomal recessive polycystic kidney disease (ARPKD) is the most common inherited childhood-onset renal disease, with underlying ciliopathy, and vari......

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