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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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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Public Library of Science
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3344894/ https://ncbi.nlm.nih.gov/pubmed/22574178 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0036524 |
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