Evaluation of novel compound variants of <i>CEP290</i> in prenatally suspected case of Meckel syndrome through whole exome sequencing-Reference-Cited by-同舟云学术

Evaluation of novel compound variants of CEP290 in prenatally suspected case of Meckel syndrome through whole exome sequencing

Published:2022-03-30 Issue:5 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Peng Meilian¹,Han Shuai¹^ORCID,Sun Juan²,He Xiaodong³,Lv Yaer²^ORCID,Yang Liwei¹^ORCID

Affiliation:

1. Center for Reproductive Medicine, Department of Obstetrics, Zhejiang Provincial People's Hospital (Affiliated People's Hospital, Hangzhou Medical College) Hangzhou China

2. Center for Reproductive Medicine, Department of Ultrasound Medicine, Zhejiang Provincial People's Hospital (Affiliated People's Hospital, Hangzhou Medical College) Hangzhou China

3. Cancer Center, Department of Radiology, Zhejiang Provincial People's Hospital (Affiliated People's Hospital, Hangzhou Medical College) Hangzhou China

Funder

Medical Science and Technology Project of Zhejiang Province

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1935

Reference25 articles.

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

2. CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders

3. Molecular diagnostics of Meckel–Gruber syndrome highlights phenotypic differences between MKS1 and MKS3

4. CEP290, a gene with many faces: mutation overview and presentation of CEP290base

5. Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy

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