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...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhang, Zhen, Li, Qi, Diao, Mei, Liu, Na, Cheng, Wei, Xiao, Ping, Zou, Jizhen, Su, Lin, Yu, Kaihui, Wu, Jian, Li, Long, Jiang, Qian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5666020/
https://www.ncbi.nlm.nih.gov/pubmed/29093530
http://dx.doi.org/10.1038/s41598-017-14835-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5666020/
https://www.ncbi.nlm.nih.gov/pubmed/29093530
http://dx.doi.org/10.1038/s41598-017-14835-6

Ejemplares similares