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RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family
Hirschsprung disease is a congenital form of aganglionic megacolon that results from cristopathy. Hirschsprung disease usually occurs as a sporadic disease, although it may be associated with several inherited conditions, such as multiple endocrine neoplasia type 2. The rearranged during transfectio...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3328835/ https://www.ncbi.nlm.nih.gov/pubmed/22584707 http://dx.doi.org/10.6061/clinics/2012(Sup01)11 |