Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus-Reference-Cited by-同舟云学术

Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus

Published:2018-01-29 Issue:4 Volume:26 Page:561-569
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Fadista João,Lund Marie,Skotte Line,Geller Frank,Nandakumar Priyanka,Chatterjee Sumantra^ORCID,Matsson Hans,Granström Anna Löf,Wester Tomas,Salo Perttu,Virtanen Valtter,Carstensen Lisbeth,Bybjerg-Grauholm Jonas^ORCID,Hougaard David Michael,Pakarinen Mikko,Perola Markus,Nordenskjöld Agneta,Chakravarti Aravinda,Melbye Mads,Feenstra Bjarke^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-017-0053-7.pdf

Reference43 articles.

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2. Löf Granström A, Svenningsson A, Hagel E, Oddsberg J, Nordenskjöld A, Wester T. Maternal risk factors and perinatal characteristics for Hirschsprung disease. Pediatrics. 2016;138:e20154608.

3. Heanue TA, Pachnis V. Enteric nervous system development and Hirschsprung’s disease: advances in genetic and stem cell studies. Nat Rev Neurosci. 2007;8:466–79.

4. Parisi MA, Kapur RP. Genetics of Hirschsprung disease. Curr Opin Pediatr. 2000;12:610–7.

5. Burkardt DD, Graham JM Jr, Short SS, Frykman PK. Advances in Hirschsprung disease genetics and treatment strategies: an update for the primary care pediatrician. Clin Pediatr. 2014;53:71–81.

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