Two Novel Frameshift Mutations in the <i>GLI3</i> Gene Underlie Non-Syndromic Polydactyly in Chinese Families-Reference-Cited by-同舟云学术

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Two Novel Frameshift Mutations in the GLI3 Gene Underlie Non-Syndromic Polydactyly in Chinese Families

Published:2023-09-01 Issue:9 Volume:27 Page:299-305
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Guo Xiaoyan¹²³^ORCID,Shi Tengfei¹^ORCID,Lin Mingrui⁴,Liu Boling⁵,Pan Yuancheng⁵

Affiliation:

1. Department of Laboratory Medicine, Fuzhou Second Hospital, Fuzhou, P.R. China.

2. Department of Laboratory Medicine, Fuzhou Second Hospital of Xiamen University, School of Medicine, Xiamen University, Fuzhou, P.R. China.

3. Department of Laboratory Medicine, The Third Clinical Medical College, Fujian Medical University, Fuzhou, P.R. China.

4. Intensive Care Unit, The Affiliated People's Hospital of Fujian Traditional Medical University, Fuzhou, P.R. China.

5. Department of Orthopaedics, Fuzhou Second Hospital, Fuzhou, P.R. China.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical),General Medicine

Link

https://www.liebertpub.com/doi/pdf/10.1089/gtmb.2023.0022

Reference30 articles.

1. A novel frameshift mutation of theGLI3gene in a family with broad thumbs with/without big toes, postaxial polydactyly and variable syndactyly of the hands/feet

2. Polydactyly: How many disorders and how many genes?

3. A novel frame-shift mutation of GLI3 causes non-syndromic and complex digital anomalies in a Chinese family

4. The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly

5. The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly

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 novel GLI3 frameshift mutation in a Chinese pedigree with polydactyly: A case report;Heliyon;2024-04

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