Literature DB >> 22428873

A novel frameshift mutation of the GLI3 gene in a family with broad thumbs with/without big toes, postaxial polydactyly and variable syndactyly of the hands/feet.

M M Al-Qattan.   

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Year:  2012        PMID： 22428873     DOI： 10.1111/j.1399-0004.2012.01866.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  7 in total

1.  Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb.

Authors:  Muhammad Umair; Khadim Shah; Bader Alhaddad; Tobias B Haack; Elisabeth Graf; Tim M Strom; Thomas Meitinger; Wasim Ahmad
Journal:  Eur J Hum Genet       Date:  2017-05-10       Impact factor: 4.246

Review 2.  Recent Advances in Syndactyly: Basis, Current Status and Future Perspectives.

Authors:  Tahir Zaib; Hibba Rashid; Hanif Khan; Xiaoling Zhou; Pingnan Sun
Journal:  Genes (Basel)       Date:  2022-04-27       Impact factor: 4.141

3.  Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes.

Authors:  Martijn Baas; Elise Bette Burger; Ans Mw van den Ouweland; Steven Er Hovius; Annelies de Klein; Christianne A van Nieuwenhoven; Robert Jan H Galjaard
Journal:  J Med Genet       Date:  2020-06-26       Impact factor: 6.318

Review 4.  A Review of the Genetics and Pathogenesis of Syndactyly in Humans and Experimental Animals: A 3-Step Pathway of Pathogenesis.

Authors:  Mohammad M Al-Qattan
Journal:  Biomed Res Int       Date:  2019-09-15       Impact factor: 3.411

5.  Novel frameshift mutations of ANKUB1, GLI3, and TAS2R3 associated with polysyndactyly in a Chinese family.

Authors:  Lishan Zhang; Xiaobin Chen; Lanwei Xu; Shibing Guan; Dehua Wang; Yanliang Lin; Zengtao Wang
Journal:  Mol Genet Genomic Med       Date:  2020-04-06       Impact factor: 2.183

6.  Prenatal Detection of Novel Compound Heterozygous Splice Site Variants of the KIAA0825 Gene in a Fetus with Postaxial Polydactyly Type A.

Authors:  Yanyi Yao; Shan Deng; Feng Zhu
Journal:  Genes (Basel)       Date:  2022-07-11       Impact factor: 4.141

7.  Clinical Genetics of Polydactyly: An Updated Review.

Authors:  Muhammad Umair; Farooq Ahmad; Muhammad Bilal; Wasim Ahmad; Majid Alfadhel
Journal:  Front Genet       Date:  2018-11-06       Impact factor: 4.599
  7 in total

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