FLNB haploinsufficiency-related short stature: a new syndrome or an expanded spectrum of Larsen syndrome-Reference-Cited by-同舟云学术

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FLNB haploinsufficiency-related short stature: a new syndrome or an expanded spectrum of Larsen syndrome

Published:2024-07-30 Issue: Volume: Page:
ISSN:1708-8569
Container-title:World Journal of Pediatrics
language:en
Short-container-title:World J Pediatr

Author:

Wang Qing,Wang Hong-Ying,Wu Shui-Yan,Wang Xue-Qian,Wu Hai-Ying,Xie Rong-Rong,Wang Feng-Yun,Chen Xiu-Li,Chen Lin-Qi,Lv Hai-Tao,Chen Ting^ORCID

Funder

Suzhou Personnel Planning Project

Science and Technology Program of Suzhou

Jiangsu Commission of Health

Summit Project of Clinical Medicine

Jiangsu Provincial Maternal and Child Health Care Program

Suzhou Clinical Center for Rare Disease

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s12519-024-00832-z.pdf

Reference10 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. Udhaya Kumar S, Sankar S, Younes S, Thirumal Kumar K, Ahmad MN, Okashah SS, et al. Deciphering the role of filamin B calponin-homology domain in causing the Larsen syndrome, boomerang dysplasia, and atelosteogenesis type I spectrum disorders via a computational approach. Molecules. 2020;25:5543.

3. Farrington-Rock C, Kirilova V, Dillard-Telm L, Borowsky AD, Chalk S, Rock MJ, et al. Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome. Hum Mol Genet. 2008;17:631–41.

4. Yang CF, Wang CH, Siong H’ng W, Chang CP, Lin WD, Chen YT, et al. Filamin B loss-of-function mutation in dimerization domain causes autosomal-recessive spondylocarpotarsal synostosis syndrome with rib anomalies. Hum Mutat. 2017;38:540–7.

5. Kong Y, Xu K, Yuan K, Zhu J, Gu W, Liang L, et al. Digenetic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome. BMC Pediatr. 2019;19:114.

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