What is new about the genetic background of Hirschsprung disease?
Hirschsprung disease (HSCR) is a rare congenital disorder caused by an incorrect enteric nervous system development due to a failure in migration, proliferation, differentiation and/or survival of enteric neural crest cells. HSCR is a complex genetic disease, where alterations at different molecular...
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| Veröffentlicht in: | Clinical genetics 2020-01, Vol.97 (1), p.114-124 |
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| container_title | Clinical genetics |
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| creator | Luzón‐Toro, Berta Villalba‐Benito, Leticia Torroglosa, Ana Fernández, Raquel M. Antiñolo, Guillermo Borrego, Salud |
| description | Hirschsprung disease (HSCR) is a rare congenital disorder caused by an incorrect enteric nervous system development due to a failure in migration, proliferation, differentiation and/or survival of enteric neural crest cells. HSCR is a complex genetic disease, where alterations at different molecular levels are required for the manifestation of the disease. In addition, a wide spectrum of mutations affecting many different genes cause HSCR, although the occurrence and severity of HSCR from many cases still remain unexplained. This review summarizes the current knowledge about molecular genetic basis of HSCR. |
| doi_str_mv | 10.1111/cge.13615 |
| format | Article |
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HSCR is a complex genetic disease, where alterations at different molecular levels are required for the manifestation of the disease. In addition, a wide spectrum of mutations affecting many different genes cause HSCR, although the occurrence and severity of HSCR from many cases still remain unexplained. 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| ispartof | Clinical genetics, 2020-01, Vol.97 (1), p.114-124 |
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| source | MEDLINE; Wiley Online Library All Journals |
| subjects | additive model Cell proliferation Enteric nervous system genetics Hirschsprung disease Hirschsprung Disease - genetics Hirschsprung Disease - pathology Hirschsprung's disease Humans Mutation - genetics Nervous System - metabolism Nervous System - pathology Nervous System Diseases - genetics Nervous System Diseases - pathology Neural crest Neural Crest - growth & development Neural Crest - pathology polygenic disease Proto-Oncogene Proteins c-ret - genetics Signal Transduction - genetics |
| title | What is new about the genetic background of Hirschsprung disease? |
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