The identification of a novel <scp> <i>CCNQ</i> </scp> gene tail extension variant contributing to syndactyly, telecanthus and anogenital and renal malformations syndrome-Reference-Cited by-同舟云学术

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The identification of a novel CCNQ gene tail extension variant contributing to syndactyly, telecanthus and anogenital and renal malformations syndrome

Published:2022-11-13 Issue:2 Volume:103 Page:179-189
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Che Ruochen¹,Wang Chunli²,Huang Songming¹³,Zheng Bixia²,Li Huixia¹,Cheng Xueqin¹,Zhao Fei¹,Ding Guixia¹,Jia Zhanjun¹²³,Zhang Aihua¹³

Affiliation:

1. Department of Nephrology Children's Hospital of Nanjing Medical University Nanjing China

2. Nanjing Key Laboratory of Pediatrics Children's Hospital of Nanjing Medical University Nanjing China

3. Jiangsu Key Laboratory of Pediatrics Nanjing Medical University Nanjing China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14255

Reference17 articles.

1. Exploring the Spectrum of Kidney Ciliopathies

2. Ciliopathies

3. Current insights into renal ciliopathies: what can genetics teach us?

4. An autosomal dominant syndrome of renal and anogenital malformations with syndactyly.

5. Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

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