A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination-Reference-Cited by-同舟云学术

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A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination

Published:2018-09-18 Issue:12 Volume:63 Page:1277-1281
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Takagi Masaki,Shimomura Satoshi,Fukuzawa Ryuji,Narumi Satoshi,Nishimura Gen,Hasegawa Tomonobu

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s10038-018-0513-0.pdf

Reference13 articles.

1. Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, et al. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 2004;36:405–10.

2. Isidor B, Cormier-Daire V, Le Merrer M, Lefrancois T, Hamel A, Le Caignec C, et al. Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity. Am J Med Genet A. 2008;146A:1593–1597.

3. Carapito R, Goldenberg A, Paul N, Pichot A, David A, Hamel A, et al. Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome. Eur J Hum Genet. 2016;24:1746–51.

4. Zieba J, Zhang W, Chong JX, Forlenza KN, Martin JH, Heard K, et al. A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis. Sci Rep. 2017;7:41803.

5. Takagi M, Dobashi K, Nagahara K, Kato M, Nishimura G, Fukuzawa R, et al. A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency. Am J Med Genet A. 2017;173:1071–6.

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Bi‐allelic variants in MYH3 cause recessively‐inherited arthrogryposis;Clinical Genetics;2024-06-10

2. A novel classification and management scheme for craniocervical junction disorders with ventral neural element compression;Journal of Neurosurgery;2023-07-01

3. Novel FLNB Variants in Seven Argentinian Cases with Spondylocarpotarsal Synostosis Syndrome;Journal of Pediatric Genetics;2022-12-15

4. Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders;npj Genomic Medicine;2022-02-15

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