Literature DB >> 32195677

Autosomal recessive Robinow syndrome with novel ROR2 variants: distinct cases exhibiting the clinical variability.

Emre Kirat1, Hatice Mutlu Albayrak2, Bahtiyar Sahinoglu1, Abdullah Ihsan Gurler1, Kadri Karaer3.   

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Year:  2020        PMID： 32195677     DOI： 10.1097/MCD.0000000000000319

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  3 in total

1.  Heterozygous Recurrent Mutations Inducing Dysfunction of ROR2 Gene in Patients With Short Stature.

Authors:  Baoheng Gui; Chenxi Yu; Xiaoxin Li; Sen Zhao; Hengqiang Zhao; Zihui Yan; Xi Cheng; Jiachen Lin; Haiyang Zheng; Jiashen Shao; Zhengye Zhao; Lina Zhao; Yuchen Niu; Zhi Zhao; Huizi Wang; Bobo Xie; Xianda Wei; Chunrong Gui; Chuan Li; Shaoke Chen; Yi Wang; Yanning Song; Chunxiu Gong; Terry Jianguo Zhang; Xin Fan; Zhihong Wu; Yujun Chen; Nan Wu
Journal:  Front Cell Dev Biol       Date:  2021-04-14

Review 2.  A novel frameshift mutation of DVL1-induced Robinow syndrome: A case report and literature review.

Authors:  Ruolan Hu; Yu Qiu; Yifei Li; Jinrong Li
Journal:  Mol Genet Genomic Med       Date:  2022-02-09       Impact factor: 2.183

3.  A novel variant in the ROR2 gene underlying brachydactyly type B: a case report.

Authors:  Jiaqi Shao; Yue Liu; Shuyang Zhao; Weisheng Sun; Jie Zhan; Lihua Cao
Journal:  BMC Pediatr       Date:  2022-09-05       Impact factor: 2.567
  3 in total

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