Heterozygous deletions within human chromosome 22q11.2 are the genetic basis of DiGeorge syndrome (DGS), the most common deletion syndrome known in humans. To elucidate the molecular mechanism underlying this disease, researchers focused their attention on mouse genetics, creating animals carrying deletions of regions syntenic to the human DGS locus or targeted mutations of individual genes. Although some of these mouse mutants recapitulate many of the phenotypic features of DGS, they do not fully explain the complex genetics of the human disease. This article gives a short overview and comments on the most recent advances in this field.
Botta, A., Amati, F., & Novelli, G. (2001). Causes of the phenotype-genotype dissociation in DiGeorge syndrome: Clues from mouse models. TRENDS IN GENETICS, 17(10), 551-554.
Tipologia: | Articolo su rivista |
Citazione: | Botta, A., Amati, F., & Novelli, G. (2001). Causes of the phenotype-genotype dissociation in DiGeorge syndrome: Clues from mouse models. TRENDS IN GENETICS, 17(10), 551-554. |
URL: | http://www.sciencedirect.com/science/article/pii/S0168952501024386 |
IF: | Con Impact Factor ISI |
Lingua: | English |
Settore Scientifico Disciplinare: | Settore MED/03 - Genetica Medica |
Revisione (peer review): | Esperti anonimi |
Tipo: | Articolo |
Rilevanza: | Rilevanza internazionale |
Digital Object Identifier (DOI): | http://dx.doi.org/10.1016/S0168-9525(01)02438-6 |
Stato di pubblicazione: | Pubblicato |
Data di pubblicazione: | 2001 |
Titolo: | Causes of the phenotype-genotype dissociation in DiGeorge syndrome: Clues from mouse models |
Autori: | |
Autori: | Botta, A; Amati, F; Novelli, G |
Appare nelle tipologie: | 01 - Articolo su rivista |