Literature DB >> 19291772

A ZRS duplication causes syndactyly type IV with tibial hypoplasia.

Lingqian Wu1, Desheng Liang, Norio Niikawa, Fen Ma, Miao Sun, Qian Pan, Zhigao Long, Zhongmin Zhou, Koh-ichiro Yoshiura, Hua Wang, Daisuke Sato, Gen Nishimura, Heping Dai, Xue Zhang, Jiahui Xia.   

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Year:  2009        PMID： 19291772     DOI： 10.1002/ajmg.a.32740

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  11 in total

Review 1.  Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature.

Authors:  Limeng Dai; Hong Guo; Hui Meng; Kun Zhang; Hua Hu; Hong Yao; Yun Bai
Journal:  Eur J Pediatr       Date:  2013-06-22       Impact factor: 3.183

Review 2.  Syndactyly: phenotypes, genetics and current classification.

Authors:  Sajid Malik
Journal:  Eur J Hum Genet       Date:  2012-02-15       Impact factor: 4.246

Review 3.  cis-regulatory mutations are a genetic cause of human limb malformations.

Authors:  Julia E VanderMeer; Nadav Ahituv
Journal:  Dev Dyn       Date:  2011-01-11       Impact factor: 3.780

4.  Hox5 interacts with Plzf to restrict Shh expression in the developing forelimb.

Authors:  Ben Xu; Steven M Hrycaj; Daniel C McIntyre; Nicholas C Baker; Jun K Takeuchi; Lucie Jeannotte; Zachary B Gaber; Bennett G Novitch; Deneen M Wellik
Journal:  Proc Natl Acad Sci U S A       Date:  2013-11-11       Impact factor: 11.205

5.  Advances in the Molecular Genetics of Non-syndromic Syndactyly.

Authors:  Hao Deng; Ting Tan
Journal:  Curr Genomics       Date:  2015-06       Impact factor: 2.236

6.  An increased duplication of ZRS region that caused more than one supernumerary digits preaxial polydactyly in a large Chinese family.

Authors:  Bin Wang; Yutao Diao; Qiji Liu; Hongqiang An; Ruiping Ma; Guosheng Jiang; Nannan Lai; Ziwei Li; Xiaoxiao Zhu; Lin Zhao; Qiang Guo; Zhen Zhang; Rong Sun; Xia Li
Journal:  Sci Rep       Date:  2016-12-06       Impact factor: 4.379

Review 7.  Zone of Polarizing Activity Regulatory Sequence Mutations/Duplications with Preaxial Polydactyly and Longitudinal Preaxial Ray Deficiency in the Phenotype: A Review of Human Cases, Animal Models, and Insights Regarding the Pathogenesis.

Authors:  Mohammad M Al-Qattan
Journal:  Biomed Res Int       Date:  2018-02-13       Impact factor: 3.411

Review 8.  A multidisciplinary review of triphalangeal thumb.

Authors:  Jacob W P Potuijt; Robert-Jan H Galjaard; Peter J van der Spek; Christianne A van Nieuwenhoven; Nadav Ahituv; Kerby C Oberg; Steven E R Hovius
Journal:  J Hand Surg Eur Vol       Date:  2018-10-14

9.  Complex radial polydactyly in a Chinese family: inclusion of triphalangism, triplication, and syndactyly.

Authors:  Jihai Xu; Xiaokun Chen; Xiaofeng Teng; Xin Wang; Hong Chen
Journal:  Ann Transl Med       Date:  2021-08

10.  A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.

Authors:  Anna Zlotina; Olesia Melnik; Yulia Fomicheva; Rostislav Skitchenko; Alexey Sergushichev; Elena Shagimardanova; Oleg Gusev; Guzel Gazizova; Tatiana Loevets; Tatiana Vershinina; Ivan Kozyrev; Mikhail Gordeev; Elena Vasichkina; Tatiana Pervunina; Anna Kostareva
Journal:  BMC Med Genomics       Date:  2020-11-20       Impact factor: 3.063
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