Two novel variants in SCARF2 gene underlie van den Ende‐Gupta syndrome
Author:
Affiliation:
1. Faculty of Medicine, Department of Medical Genetic Pamukkale University Denizli Turkey
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62707
Reference17 articles.
1. Further delineation of the Van den Ende-Gupta syndrome
2. Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report
3. Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome
4. Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome
5. Congenital contractural arachnodactyly in two double second cousins: possible homozygosity
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