The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model

The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model

Patients with Hirschsprung disease (HSCR) do not always receive a genetic diagnosis after routine screening in clinical practice. One of the reasons for this could be that the causal mutation is not present in the cell types that are usually tested—whole blood, dermal fibroblasts or saliva—but is on...

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Autores principales: Katherine C. MacKenzie, Rhiana Garritsen, Rajendra K. Chauhan, Yunia Sribudiani, Bianca M. de Graaf, Tim Rugenbrink, Rutger Brouwer, Wilfred F. J. van Ijcken, Ivo de Blaauw, Alice S. Brooks, Cornelius E. J. Sloots, Conny J. H. M. Meeuwsen, René M. Wijnen, Donald F. Newgreen, Alan J. Burns, Robert M. W. Hofstra, Maria M. Alves, Erwin Brosens
Formato: article
Lenguaje:EN
Publicado: MDPI AG 2021
Materias:
Enteric Nervous System
somatic mutation
Hirschsprung disease
missing heritability
gastrointestinal disease
motility disorder
Biology (General)
QH301-705.5
Chemistry
QD1-999
Acceso en línea:https://doaj.org/article/f7f6764065824070b5f3079e8362a7e4
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https://doaj.org/article/f7f6764065824070b5f3079e8362a7e4

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