A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/article/10.1186/s12881-014-0110-9/fulltext.html
Reference15 articles.
1. Shubha RP, Sankar VH: Polydactyly and genes. Indian J Pediatr. 2010, 77 (3): 277-281. 10.1007/s12098-010-0033-1.
2. Chong AK: Common congenital hand conditions. Singapore Med J. 2010, 51 (12): 965-971.
3. Biesecker LG: Polydactyly: how many disorders and how many genes?. Am J Med Genet. 2002, 112 (3): 279-283. 10.1002/ajmg.10779.
4. Biesecker LG: What you can learn from one gene: GLI3. J Med Genet. 2006, 43: 465-469. 10.1136/jmg.2004.029181.
5. Motoyoma J: Essential roles of Gli3 and sonic hedgehog in pattern formation and developmental anomalies caused by their dysfunction. Congenit Anom (Kyoto). 2006, 46: 123-128. 10.1111/j.1741-4520.2006.00114.x.
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1. A novel missense variant located within the zinc finger domain of the GLI3 gene was identified in a Vietnamese pedigree with index finger polydactyly;Molecular Genetics & Genomic Medicine;2024-06
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3. Two Novel Frameshift Mutations in the GLI3 Gene Underlie Non-Syndromic Polydactyly in Chinese Families;Genetic Testing and Molecular Biomarkers;2023-09-01
4. A review of polydactyly and its inheritance: Connecting the dots;Medicine;2022-12-16
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