Comprehensive analysis of NRG1 common and rare variants in Hirschsprung patients.
Hirschsprung disease (HSCR, OMIM 142623) is a developmental disorder characterized by the absence of ganglion cells along variable lengths of the distal gastrointestinal tract, which results in tonic contraction of the aganglionic gut segment and functional intestinal obstruction. The RET proto-onco...
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| Главные авторы: | , , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Public Library of Science (PLoS)
2012-01-01
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| Серии: | PLoS ONE |
| Online-ссылка: | https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22574178/pdf/?tool=EBI |
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