Exome Sequencing Identifies RET Associated Hirschsprung Disease in a Fetus with Echogenic Bowel
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s40556-019-00212-y.pdf
Reference11 articles.
1. Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, Borrego S, et al. Hirschsprung disease consortium: hirschsprung disease, associated syndromes and genetics: a review. J Med Genet. 2008;45(1):1–14.
2. Julies MG, Moore SW, Kotze MJ, du Plessis L. Novel RET mutations in Hirschsprung’s disease patients from the diverse South African population. Eur J Hum Genet. 2001;9(6):419–23.
3. So MT, Leon TY, Cheng G, Tang CS, Miao XP, Cornes BK. RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients. PLoS ONE. 2011;6(12):e28986.
4. Drury S, Trump N, Williams H, Boustred C, GOSGene, Lench N, et al. Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities. Prenat Diagn. 2015;35(10):1010–7.
5. Bahrami A, Joodi M, Moetamani-Ahmadi M, Maftouh M, Hassanian SM, Ferns GA, et al. Genetic background of hirschsprung disease: a bridge between basic science and clinical application. J Cell Biochem. 2018;119(1):28–33.
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