Phenotype and Genotype Study in a Case of Frontometaphyseal Dysplasia 1-Reference-Cited by-同舟云学术

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Phenotype and Genotype Study in a Case of Frontometaphyseal Dysplasia 1

Published:2021 Issue: Volume: Page:319-323
ISSN:0065-2598
Container-title:GeNeDis 2020
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Author:

Yapijakis Christos,Vylliotis Antonis,Angelopoulou Antonia,Adamopoulou Mary,Chrousos George P.,Voumvourakis Costas

Publisher

Springer International Publishing

Link

https://link.springer.com/content/pdf/10.1007/978-3-030-78787-5_38

Reference15 articles.

1. Baldassarre M, Razinia Z, Burande CF, Lamsoul I, Lutz PG, Calderwood DA (2009) Filamins regulate cell spreading and initiation of cell migration. PLoS One 4:e7830

2. Basart H, van de Kar A, Adès L, Cho TJ, Carter E, Maas SM, Wilson LC, van der Horst CM, Wade EM, Robertson SP, Hennekam RC (2015) Frontometaphyseal dysplasia and keloid formation without FLNA mutations. Am J Med Genet A 167(6):1215–1222

3. D’Addario M, Arora PD, Ellen RP, McCulloch CA (2002) Interaction of p38 and Sp1 in a mechanical force-induced, β1 integrin-mediated transcriptional circuit that regulates the actin-binding protein filamin-A. J Biol Chem 277:47541–47550

4. Ehrenstein T, Maurer J, Liokumowitsch M, Mack M, Felix R, Bier J (1997) CT and MR findings in frontometaphyseal dysplasia. J Comput Assist Tomogr 21:218–220

5. Feng Y, Walsh CA (2004) The many faces of filamin: a versatile molecular scaffold for cell motility and signalling. Nat Cell Biol 6:1034–1038

Cited by 1 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. X-linked frontometaphyseal dysplasia 1;Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics);2024-07-13

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