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Article

PAX2 mutations in fetal renal hypodysplasia.

American journal of medical genetics. Part A - 1 Apr 2010

Martinovic-Bouriel Jelena, Benachi Alexandra, Bonnière Maryse, Brahimi Nora, Esculpavit Chantal, Morichon Nicole, Vekemans Michel, Antignac Corinne, Salomon Rémi, Encha-Razavi Féréchté, Attié-Bitach Tania, Gubler Marie-Claire

Abstract excerpt

Papillorenal syndrome also known as renal-coloboma syndrome (OMIM 120330) is an autosomal dominant condition comprising optic nerve anomaly and renal oligomeganephronic hypoplasia. This reduced number of nephron generations with compensatory glomerular hypertrophy leads towards chronic insufficiency with renal failure. We report on two fetuses with PAX2 mutations presenting at 24 and 18 weeks' gestation,...

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Source

Identifiers

PMID: 20358591
DOI: 10.1002/ajmg.a.33133

Genes

PAX2

Variants

Provenance

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