Challenges in establishing genotype–phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations-Reference-Cited by-同舟云学术

Challenges in establishing genotype–phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations

Published:2017-03-31 Issue:7 Volume:32 Page:1269-1273
ISSN:0931-041X
Container-title:Pediatric Nephrology
language:en
Short-container-title:Pediatr Nephrol

Author:

Ebner Kathrin,Dafinger Claudia,Ortiz-Bruechle Nadina,Koerber Friederike,Schermer Bernhard,Benzing Thomas,Dötsch Jörg,Zerres Klaus,Weber Lutz Thorsten,Beck Bodo B.,Liebau Max Christoph

Funder

European Society for Pediatric Nephrology

German PKD Foundation

Medical Faculty, University of Cologne

Marga and Walter Boll Foundation

Bundesministerium für Bildung und Forschung

Bundesministerium für Bildung und Forschung (DE)

Medical Faculty of the University of Cologne

Publisher

Springer Science and Business Media LLC

Subject

Nephrology,Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/article/10.1007/s00467-017-3648-x/fulltext.html

Reference15 articles.

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4. Ward CJ, Hogan MC, Rossetti S, Walker D, Sneddon T, Wang X, Kubly V, Cunningham JM, Bacallao R, Ishibashi M, Milliner DS, Torres VE, Harris PC (2002) The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet 30:259–269

5. Bergmann C, Senderek J, Windelen E, Küpper F, Middeldorf I, Schneider F, Dornia C, Rudnik-Schöneborn S, Konrad M, Schmitt CP, Seeman T, Neuhaus TJ, Vester U, Kirfel J, Büttner R, Zerres K, APN (Arbeitsgemeinschaft für Pädiatrische Nephrologie), (2005) Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int 67:829–848

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