A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by aPAX2mutation-Reference-Cited by-同舟云学术

A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by aPAX2mutation

Published:2013-06-23 Issue:4 Volume:6 Page:410-413
ISSN:2048-8505
Container-title:Clinical Kidney Journal
language:en
Short-container-title:Clin Kidney J

Author:

Adam Jennifer,Browning Andrew C.,Vaideanu Daniela,Heidet Laurence,Goodship Judith A.,Sayer John A.

Publisher

Oxford University Press (OUP)

Subject

Transplantation,Nephrology

Link

http://academic.oup.com/ckj/article-pdf/6/4/410/977552/sft058.pdf

Reference7 articles.

1. Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

2. Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations;Schimmenti;Am J Hum Genet,1997

3. Multicystic Dysplastic Kidney and Variable Phenotype in a Family with a Novel Deletion Mutation ofPAX2

4. HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort

5. Discordant phenotype in monozygotic twins with renal coloboma syndrome and a PAX2 mutation

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