Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay

Retinoblastoma (Rb) results from inactivation of both alleles of the RB1 gene located in 13q14.2. Whole-germline monoallelic deletions of the RB1 gene (6% of RB1 mutational spectrum) sometimes cause a variable degree of psychomotor delay and several dysmorphic abnormalities. Breakpoints in 12 Rb pat...

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Hlavní autoři: Castéra, Laurent, Dehainault, Catherine, Michaux, Dorothée, Lumbroso-Le Rouic, Livia, Aerts, Isabelle, Doz, Francois, Pelet, Anna, Couturier, Jérôme, Stoppa-Lyonnet, Dominique, Gauthier-Villars, Marion, Houdayer, Claude
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2013
Témata:
Short Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3598316/
https://ncbi.nlm.nih.gov/pubmed/22909775
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.186
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