Literature DB >> 19686284

Polyalanine repeat expansion mutations in the HOXD13 gene in Pakistani families with synpolydactyly.

M Wajid, Y Ishii, M Kurban, M B Dua-Awereh, Y Shimomura, A M Christiano.   

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Year:  2009        PMID: 19686284     DOI: 10.1111/j.1399-0004.2009.01213.x

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


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  6 in total

1.  Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report.

Authors:  Aleksander Jamsheer; Anna Sowińska; Leszek Kaczmarek; Anna Latos-Bieleńska
Journal:  BMC Med Genet       Date:  2012-01-10       Impact factor: 2.103

2.  The epidemiology, genetics and future management of syndactyly.

Authors:  D Jordan; S Hindocha; M Dhital; M Saleh; W Khan
Journal:  Open Orthop J       Date:  2012-03-23

3.  Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families.

Authors:  Limeng Dai; Dan Liu; Min Song; Xueqing Xu; Gang Xiong; Kang Yang; Kun Zhang; Hui Meng; Hong Guo; Yun Bai
Journal:  PLoS One       Date:  2014-05-01       Impact factor: 3.240

4.  A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance.

Authors:  Mazen Kurban; Muhammad Wajid; Lynn Petukhova; Yutaka Shimomura; Angela M Christiano
Journal:  J Hum Genet       Date:  2011-08-04       Impact factor: 3.172

5.  A heterozygous duplication variant of the HOXD13 gene caused synpolydactyly type 1 with variable expressivity in a Chinese family.

Authors:  Tahir Zaib; Wei Ji; Komal Saleem; Guangchen Nie; Chao Li; Lin Cao; Baijun Xu; Kexian Dong; Hanfei Yu; Xuguang Hao; Yan Xue; Shuhan Si; Xueyuan Jia; Jie Wu; Xuelong Zhang; Rongwei Guan; Guohua Ji; Jing Bai; Feng Chen; Yong Liu; Wenjing Sun; Songbin Fu
Journal:  BMC Med Genet       Date:  2019-12-23       Impact factor: 2.103

6.  Functional classification and mutation analysis of a synpolydactyly kindred.

Authors:  Jianda Zhou; Yao Chen; Ke Cao; Yonghua Zou; Haiyan Zhou; Feng Hu; Bin Ni; Yong Chen
Journal:  Exp Ther Med       Date:  2014-09-11       Impact factor: 2.447

  6 in total

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