Perrault syndrome: Clinical report and retrospective analysis-Reference-Cited by-同舟云学术

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Perrault syndrome: Clinical report and retrospective analysis

Published:2020-08-07 Issue:10 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Pan Zhaoyu¹^ORCID,Xu Hongen²^ORCID,Tian Yongan³⁴,Liu Danhua²,Liu Huanfei²,Li Ruijun²,Dou Qian⁵,Zuo Bin¹,Zhai Rongqun¹,Tang Wenxue²⁴⁶,Lu Wei¹

Affiliation:

1. Department of Otorhinolaryngology, Head and Neck Surgery The First Affiliated Hospital of Zhengzhou University Zhengzhou China

2. Precision Medicine Center Academy of Medical Science Zhengzhou University Zhengzhou China

3. BGI College Zhengzhou University Zhengzhou China

4. Henan Institute of Medical and Pharmaceutical Sciences Zhengzhou University Zhengzhou China

5. Reproductive Medical Center The Second Affiliated Hospital of Zhengzhou University Zhengzhou China

6. Department of Otorhinolaryngology Head and Neck Surgery The Second Affiliated Hospital of Zhengzhou University Zhengzhou China

Funder

Zhengzhou University

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1445

Reference22 articles.

1. Perrault syndrome with amenorrhea, infertility, Tarlov cyst, and degenerative disc

2. The Role of Aminoacyl-tRNA Synthetases in Genetic Diseases

3. Toward the Full Set of Human Mitochondrial Aminoacyl-tRNA Synthetases: Characterization of AspRS and TyrRS

4. Expression and characterization of the human mitochondrial leucyl-tRNA synthetase

5. The 2 Å crystal structure of leucyl-tRNA synthetase and its complex with a leucyl-adenylate analogue

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2. Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families;Molecular Biology Reports;2024-07-25

3. Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases;Genes;2024-07-19

4. Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms;BMC Medical Genomics;2024-04-16

5. Delayed Diagnosis of Perrault Syndrome: A Rare Genetic Disorder;Case Reports in Medicine;2024-01-12

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