Etiological identification of recurrent male fatality due to a novel <i>NSDHL</i> gene mutation using trio whole‐exome sequencing: A rare case report and literature review-Reference-Cited by-同舟云学术

Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review

Published:2022-12-11 Issue:3 Volume:11 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Zhuang Jianlong¹^ORCID,Luo Qi²,Xie Meihua³,Chen Yu’e⁴,Jiang Yuying¹,Zeng Shuhong¹,Wang Yuanbai¹,Xie Yingjun⁵⁶,Chen Chunnuan⁷

Affiliation:

1. Center for Prenatal Diagnosis Quanzhou Women's and Children's Hospital Quanzhou Fujian Province China

2. Department of Public Health for Women and Children Quanzhou Women's and Children's Hospital Quanzhou Fujian China

3. Prenatal Diagnosis Center Yueyang Central Hospital Yueyang China

4. Ultrasonography Quanzhou Women's and Children's Hospital Quanzhou China

5. Department of Obstetrics and Gynecology, Key Laboratory for Major Obstetric Diseases of Guangdong Province The Third Affiliated Hospital of Guangzhou Medical University Guangzhou PR China

6. Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes The Third Affiliated Hospital of Guangzhou Medical University Guangzhou PR China

7. Department of Neurology The Second Affiliated Hospital of Fujian Medical University Quanzhou Fujian Province PR China

Funder

Fujian Provincial Health Commission

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2121

Reference31 articles.

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2. Recurrent intrauterine fetal loss due to near absence of HERG: Clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation

3. Mutational spectrum of NSDHL in CHILD syndrome

4. Genomic diagnosis for children with intellectual disability and/or developmental delay

5. Left‐sided CHILD syndrome caused by a nonsense mutation in exon 7 of the NSDHL gene;Danarti R.;European Journal of Dermatology,2010

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