Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.

doi:10.1038/ki.2009.440

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Article

Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.

Kidney international - 1 Feb 2010

Denamur Erick, Delezoide Anne-Lise, Alberti Corinne, Bourillon Agnès, Gubler Marie-Claire, Bouvier Raymonde, Pascaud Olivier, Elion Jacques, Grandchamp Bernard, Michel-Calemard Laurence, Missy Pascale, Zaccaria Isabelle, Le Nagard Hervé, Gerard Bénédicte, Loirat Chantal, Barbet J, Beaufrère A M, Berchel C, Bessières B, Boudjemaa S, Buenerd A, Carles D, Clemenson A, Dechelotte P, Devisme L, Dijoud F, Espérandieu O, Fallet C, Gonzalès M, Hillion Y, Jacob B, Joubert M, Kermanach P, Lallemand A, Laquerrière A, Laurent N, Liprandi A, Loeuillet L, Loget P, Martinovic J, Ménez F, Narcy F, Roux J J, Rouleau-Dubois C, Sinico M, Tantau J, Wann A R

Abstract excerpt

The prognosis of autosomal recessive polycystic kidney disease is known to correlate with genotype. The presence of two truncating mutations in the PKHD1 gene encoding the fibrocystin protein is associated with neonatal death while patients who survive have at least one missense mutation. To dete...

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Identifiers

PMID: 19940839
DOI: 10.1038/ki.2009.440

Genes

PKHD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19940839-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.PMID 19940839Read ↗

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