Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia-Reference-Cited by-同舟云学术

Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia

Published:2017-03-23 Issue:8 Volume:62 Page:797-801
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Guo Long,Elcioglu Nursel H,Mizumoto Shuji,Wang Zheng,Noyan Bilge,Albayrak Hatice M,Yamada Shuhei,Matsumoto Naomichi,Miyake Noriko,Nishimura Gen,Ikegawa Shiro

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/jhg201738.pdf

Reference29 articles.

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2. Guo, L ., Girisha, K. M ., Iida, A ., Hebbar, M ., Shukla, A ., Shah, H. et al. Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia. J. Hum. Genet. 62, 437–441 (2016).

3. Wang, Z ., Horemuzova, E ., Iida, A ., Guo, L ., Liu, Y ., Matsumoto, N. et al. Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations. J. Hum. Genet. (e-pub ahead of print 26 January 2017; doi: 10.1038/jhg.2016.157).

4. Miyatake, S ., Tada, H ., Moriya, S ., Takanashi, J ., Hirano, Y ., Hayashi, M. et al. Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy. Clin. Genet. 87, 395–397 (2015).

5. Mizumoto, S ., Ikegawa, S. & Sugahara, K. Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycans. J. Biol. Chem. 288, 10953–10961 (2013).

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