A novel frameshift mutation of <scp> <i>DVL1</i> </scp> ‐induced Robinow syndrome: A case report and literature review-Reference-Cited by-同舟云学术

A novel frameshift mutation of DVL1 ‐induced Robinow syndrome: A case report and literature review

Published:2022-02-09 Issue:3 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Hu Ruolan¹,Qiu Yu¹,Li Yifei¹^ORCID,Li Jinrong¹^ORCID

Affiliation:

1. Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, Department of Pediatrics West China Second University Hospital, Sichuan University Chengdu China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1886

Reference17 articles.

1. Prenatal diagnosis of robinow syndrome: A case report

2. Robinow syndrome: Genital analysis, genetic heterogeneity, and associated psychological impact

3. Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound

4. Highly accurate protein structure prediction with AlphaFold

5. Tomographic Study of the Malformation Complex in Correlation With the Genotype in Patients With Robinow Syndrome: Review Article

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