Whole Exome Sequencing Identifies a Novel Pathogenic RET Variant in Hirschsprung Disease

Hirschsprung disease is a birth defect characterized by complete absence of neuronal ganglion cells from a portion of the intestinal tract. To uncover genetic variants contributing to HSCR, we performed whole exome sequencing on seven members of an HSCR family. With the minor allele frequency (MAF)...

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Detalles Bibliográficos
Autores principales: Wu, Wei, Lu, Li, Xu, Weijue, Liu, Jiangbin, Sun, Jun, Zheng, Lulu, Sheng, Qingfeng, Lv, Zhibao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6339922/
https://www.ncbi.nlm.nih.gov/pubmed/30693022
http://dx.doi.org/10.3389/fgene.2018.00752

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6339922/
https://www.ncbi.nlm.nih.gov/pubmed/30693022
http://dx.doi.org/10.3389/fgene.2018.00752

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