Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330)-Reference-Cited by-同舟云学术

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Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330)

Published:1998-09-02 Issue:2 Volume:103 Page:149-153
ISSN:0340-6717
Container-title:Human Genetics
language:
Short-container-title:Human Genetics

Author:

Devriendt K.,Matthijs Gert,Van Damme Boudewijn,Van Caesbroeck Daniel,Eccles Michael,Vanrenterghem Yves,Fryns Jean-Pierre,Leys Anita

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s004390050798.pdf

Cited by 39 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The multifaceted links between hearing loss and chronic kidney disease;Nature Reviews Nephrology;2024-01-29

2. De Novo PAX2 Mutation With Associated Papillorenal Syndrome: A Case Report and Literature Review of Penetrance and Expressivity;Cureus;2022-09-11

3. Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia;American Journal of Medical Genetics Part A;2020-08-09

4. Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease;Kidney360;2020-05-13

5. Rethinking genotype-phenotype correlations in papillorenal syndrome: a case report on an unusual congenital camptodactyly and skeletal deformity with a heterogeneous PAX2 mutation of hexanucleotide duplication;Gene;2018-01

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