Sporadic Hirschsprung Disease: Mutational Spectrum and Novel Candidate Genes Revealed by Next-generation Sequencing

Hirschsprung disease (HSCR) is a common cause of functional colonic obstruction in children. The currently available genetic testing is often inadequate as it mainly focuses on RET and several other genes, accounting for only 15–20% of cases. To identify novel, potentially pathogenic variants, we is...

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Xehetasun bibliografikoak
Argitaratua izan da:Sci Rep
Egile Nagusiak: Zhang, Zhen, Li, Qi, Diao, Mei, Liu, Na, Cheng, Wei, Xiao, Ping, Zou, Jizhen, Su, Lin, Yu, Kaihui, Wu, Jian, Li, Long, Jiang, Qian
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group UK 2017
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5666020/
https://ncbi.nlm.nih.gov/pubmed/29093530
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-14835-6
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