A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype

Down syndrome (DS) is the most common genetic cause of intellectual disability (ID) and in the majority of cases is the result of complete trisomy 21. The hypothesis that the characteristic DS clinical features are due to a single DS critical region (DSCR) at distal chromosome 21q has been refuted b...

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Dades bibliogràfiques
Publicat a:NPJ Genom Med
Autors principals: Weisfeld-Adams, James D, Tkachuk, Amanda K, Maclean, Kenneth N, Meeks, Naomi L, Scott, Stuart A
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2016
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5102301/
https://ncbi.nlm.nih.gov/pubmed/27840696
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/npjgenmed.2016.3
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