A novel PAX2 heterozygous mutation in a family with Papillorenal syndrome: A case report and review of the literature

Author:

Liu Shixue,Zhang Peijun,Wu JihongORCID,Chang QingORCID

Funder

Science and Technology Commission of Shanghai Municipality

Publisher

Elsevier BV

Subject

Ophthalmology

Reference13 articles.

1. [On the clinical picture of Handmann's anomaly of the optic nerve Morning glory syndrome? (author's transl)];Rieger;Klin Monbl Augenheilkd,1977

2. Renal coloboma syndrome;Schimmenti;Eur J Med Genet,2011

3. Congenital abnormalities of the optic nerve: from gene mutation to clinical expression;Wall;Curr Neurol Neurosci Rep,2013

4. A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome;Hoefele;Eur J Med Genet,2012

5. Next-generation sequencing-aided precise diagnosis of Stickler syndrome type I;Wang;Acta Ophthalmol,2020

Cited by 2 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. PAX2 Gene Mutation in Pediatric Renal Disorders—A Narrative Review;International Journal of Molecular Sciences;2023-08-13

2. Development and Developmental Disorders of the Forebrain;Clinical Neuroembryology;2023

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