A novel biallelic variant c. <scp>2219T</scp> > A p.(Leu740*) in <scp> <i>ADGRG6</i> </scp> as a cause of lethal congenital contracture syndrome 9-Reference-Cited by-同舟云学术

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A novel biallelic variant c. 2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9

Published:2022-10-09 Issue:1 Volume:103 Page:127-129
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Shravya Mangalore S.¹,Mathew Mary²,Vasudeva Akhila³,Girisha Katta M.¹^ORCID,Nayak Shalini S.¹

Affiliation:

1. Department of Medical Genetics, Kasturba Medical College, Manipal Manipal Academy of Higher Education Manipal India

2. Department of Pathology, Kasturba Medical College, Manipal Manipal Academy of Higher Education Manipal India

3. Department of Obstetrics and Gynaecology, Kasturba Medical College, Manipal Manipal Academy of Higher Education Manipal India

Funder

The Wellcome Trust DBT India Alliance

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14237

Reference7 articles.

1. Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita

2. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

3. GPR126 : A novel candidate gene implicated in autosomal recessive intellectual disability

4. Fetal exome sequencing: yield and limitations in a tertiary referral center

5. Phenotypic expansion illuminates multilocus pathogenic variation

Cited by 1 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. A screen of pharmacologically active compounds to identify modulators of the Adgrg6/Gpr126 signalling pathway in zebrafish embryos;Basic & Clinical Pharmacology & Toxicology;2023-07-16

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