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Adult-Onset Autosomal Recessive Polycystic Kidney Disease Caused by a New Pathological Heterozygotic <em>PKHD1</em> Variant

openalex   +2 more sources

[Autosomal recessive polycystic kidney disease in a girl]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Xu XY, Zhou QM, Tian YF, Zhao Q, Pan H, Chen QT, Luo YM, Guo ZZ, Li TH, Yang JH.   +9 more
europepmc   +1 more source

Reversal of elevatedGli3in Autosomal Recessive Polycystic Kidney Disease does not alter cystogenesis

Russell LG, Kolatsi-Joannou M, Wilson L, Chandler JC, Tejedor NP, Stagg G, Price KL, Rowan CJ, Crompton T, Rosenblum ND, Winyard PJ, Long DA.   +11 more
europepmc   +1 more source

Phenotypic Discordance among Siblings with Autosomal Recessive Polycystic Kidney Disease: Case Report and Review of the Literature.

Nephron
Henein M, Russo F, Sentell ZT, Goupil R, Kitzler TM.   +4 more
europepmc   +1 more source

A novel PKD1 variant in a patient with very-early-onset ADPKD. [PDF]

Hum Genome Var
Kondoh T, Ando T, Matsumoto Y, Kumagai N, Tanaka Y, Morisada N, Nozu K, Ikezumi Y.   +7 more
europepmc   +1 more source

Qualitative Analysis and Comparison of Externally Led Patient-Focused Drug Development Concepts for Autosomal Recessive Polycystic Kidney Disease Against SONG Initiatives. [PDF]

Kidney Med
Soyfer B, Fedeles S, Ruyle W, Hoover E, Liebau MC, Hartung EA, Dell KM, Guay-Woodford LM, Perrone RD, Oberdhan D.   +9 more
europepmc   +1 more source

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An Ashkenazi founder mutation in the PKHD1 gene

European Journal of Medical Genetics, 2016
Autosomal recessive polycystic kidney disease (ARPKD) is usually detected late in pregnancies in embryos with large echogenic kidneys accompanied by oligohydramnios. Hundreds of private pathogenic variants have been identified in the large PKHD1 gene in various populations.
Adina, Quint, Michal, Sagi, Shai, Carmi, Hagit, Daum, Michal, Macarov, Ziva, Ben Neriah, Vardiela, Meiner, Orly, Elpeleg, Israela, Lerer   +8 more
openaire   +2 more sources