Literature DB >> 22303805

A 20.5-Mb germline deletion of 13q13.1-->q14.3 and somatic mutations of the RB1 gene in an 8-year-old girl with unilateral retinoblastoma, developmental delay and mental retardation.

C-P Chen, L-Y Kao, Y-N Su, M Chen, S-D Chang, W Wang.   

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Year:  2011        PMID： 22303805

Source DB:  PubMed          Journal:  Genet Couns        ISSN： 1015-8146


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  1 in total

1.  Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations.

Authors:  Ming-yan He; Yu An; Yi-jin Gao; Xiao-wen Qian; Gang Li; Jiang Qian
Journal:  Mol Vis       Date:  2014-04-25       Impact factor: 2.367
  1 in total

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