Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome-Reference-Cited by-同舟云学术

Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome

Published:2019-12-15 Issue:2 Volume:24 Page:1906-1916
ISSN:1582-1838
Container-title:Journal of Cellular and Molecular Medicine
language:en
Short-container-title:J Cell Mol Med

Author:

Zhang Rui¹,Chen Shaoyun¹,Han Peng²³,Chen Fangfang⁴,Kuang Shan²³,Meng Zhuo¹,Liu Junnian²³⁵,Sun Ruliang⁴,Wang Zhiwei²³,He Xiaohong¹,Li Yong²³,Guan Yuanning²³,Yue Zhengfang⁶,Li Chen⁷,Kumar Dey Subrata⁸⁹,Zhu Yuanfang¹,Banerjee Santasree²³⁵⁹^ORCID

Affiliation:

1. Division of Maternal‐Fetal Medicine Bao'an Women and Children's Hospital Jinan University Shenzhen China

2. BGI‐Qingdao BGI‐Shenzhen Qingdao China

3. China National GeneBank BGI‐Shenzhen Shenzhen China

4. Department of Pathology Bao'an Maternity and Child Health Hospital Shenzhen China

5. BGI‐Shenzhen Beishan Industrial Zone Shenzhen China

6. BGI‐Genomics BGI‐Shenzhen Shenzhen China

7. Department of Cell Biology and Medical Genetics School of Medicine Zhejiang University Hangzhou China

8. Department of Biotechnology Centre for Genetic Studies School of Biotechnology and Biological Sciences Maulana Abul Kalam Azad University of Technology (Formerly West Bengal University of Technology) Kolkata India

9. Brainware University Barasat India

Publisher

Wiley

Subject

Cell Biology,Molecular Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jcmm.14887

Reference36 articles.

1. Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

2. Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

3. 12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4

4. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome

5. Spectrum ofMKS1andMKS3mutations in Meckel syndrome: a genotype-phenotype correlation

Cited by 63 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. Prenatal chromosomal microarray analysis in a large Chinese cohort of fetuses with congenital heart defects: a single center study;Orphanet Journal of Rare Diseases;2024-08-22

2. Clinical and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular muscles;Orphanet Journal of Rare Diseases;2024-08-15

3. A novel mutation in the ATP7B gene causing hepatolenticular degeneration in a Chinese family: A case report;Medicine;2024-08-02

4. Novel splice site and nonsense variants in PKHD1 cause autosomal recessive polycystic kidney disease in a Chinese Zhuang ethnic family;Medicine;2024-08-02

5. Chinese carrier of the HNF1A p.Gln444fs variant exhibits enhanced response to sulfonylureas;Heliyon;2024-08