Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review-Reference-Cited by-同舟云学术

Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review

Published:2024-04-02 Issue:7 Volume:69 Page:321-327
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Wang Lin,Mizumoto Shuji^ORCID,Zhang Ruixue,Zhang Yuqi,Liu Yuan,Cheng Wenjing,Li Xin,Dan Min,Zhang Chunyan,Gao Xinru,Wang Juan,Han Jiaqi,Jiao Lianying,Wang Yating,Jin Qiujie,Yang Lihui,Li Chenxing,Li Shuxian,Zhu Jinhui,Jiang Hai,Nishimura Gen,Yamada Takahiro^ORCID,Yamada Shuhei,Cai Na,Qiang Rong,Guo Long^ORCID

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/s10038-024-01248-3.pdf

Reference23 articles.

1. Solomon L, Jimenez RB, Reiner L. Spondylothoracic dysostosis: report of two cases and review of the literature. Arch Pathol Lab Med. 1978;102:201–5.

2. Gucev ZS, Tasic V, Pop-Jordanova N, Sparrow DB, Dunwoodie SL, Ellard S, et al. Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: negative mutation analysis of DLL3, MESP2, HES7, and LFNG. Am J Med Genet A. 2010;152A:1378–82. https://doi.org/10.1002/ajmg.a.33471

3. Whittock NV, Sparrow DB, Wouters MA, Sillence D, Ellard S, Dunwoodie SL, et al. Mutated MESP2 causes spondylocostal dysostosis in humans. Am J Hum Genet. 2004. https://doi.org/10.1086/421053

4. Sparrow DB, Chapman G, Wouters MA, Whittock NV, Ellard S, Fatkin D, et al. Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. Am J Hum Genet. 2006;78:28–37. https://doi.org/10.1086/498879

5. Sparrow DB, Guillen-Navarro E, Fatkin D, Dunwoodie SL. Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. Hum Mol Genet. 2008;17:3761–6. https://doi.org/10.1093/hmg/ddn272