The Master of Puppets: Pleiotropy of PDGFRB and its Relationship to Multiple Diseases
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s12031-020-01618-4.pdf
Reference24 articles.
1. Al Qawahmed R, Sawyer SL, Vassilyadi M, Qin W, Boycott KM, Michaud J (2018) Infantile myofibromatosis with intracranial extradural involvement and PDGFRB mutation: a case report and review of the literature. Pediatr Dev Pathol 22:58–264. https://doi.org/10.1177/1093526618787736
2. Arts FA, Sciot R, Brichard B, Renard M, de Rocca Serra A, Dachy G et al (2017) PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis. Hum Mol Genet 26(10):1801–1810. https://doi.org/10.1093/hmg/ddx081
3. Cheung YH, Gayden T, Campeau PM, LeDuc CA, Russo D, Nguyen V-H et al (2013) A recurrent PDGFRB mutation causes familial infantile myofibromatosis. Am J Hum Genet 92(6):996–1000. https://doi.org/10.1016/j.ajhg.2013.04.026
4. Deelen P, van Dam S, Herkert JC, Karjalainen JM, Brugge H, Abbott KM, et al (2018) Improving the diagnostic yield of exome-sequencing, by predicting gene-phenotype associations using large-scale gene expression analysis. bioRxiv. https://doi.org/10.1101/375766
5. Gawlinski P, Pelc M, Ciara E, Jhangiani S, Jurkiewicz E, Gambin T et al (2018) Phenotype expansion and development in Kosaki overgrowth syndrome. Clin Genet 93(4):919–924. https://doi.org/10.1111/cge.13192
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