Identification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia: evidence of digenic inheritance
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s11684-023-1000-3.pdf
Reference16 articles.
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3. Cox TC, Camci ED, Vora S, Luquetti DV, Turner EE. The genetics of auricular development and malformation: new findings in model systems driving future directions for microtia research. Eur J Med Genet 2014; 57(8): 394–401
4. Luquetti DV, Heike CL, Hing AV, Cunningham ML, Cox TC. Microtia: epidemiology and genetics. Am J Med Genet A 2012; 158A(1): 124–139
5. Fischer S, Lüdecke HJ, Wieczorek D, Böhringer S, Gillessen-Kaesbach G, Horsthemke B. Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculoauriculo-vertebral spectrum. Hum Mol Genet 2006; 15(4): 581–587
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