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. | Genet Couns;22(4): 431-4, 2011. | MEDLINE

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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.

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

Genet Couns ; 22(4): 431-4, 2011.

Article in En | MEDLINE | ID: mdl-22303805

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Collection: 01-internacional Database: MEDLINE Main subject: Retinoblastoma / Developmental Disabilities / Retinoblastoma Protein / Chromosome Deletion / Germ-Line Mutation / Retinal Neoplasms / Alleles / Intellectual Disability Type of study: Diagnostic_studies Limits: Child / Female / Humans Language: En Journal: Genet Couns Journal subject: ETICA / GENETICA MEDICA Year: 2011 Document type: Article

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Collection: 01-internacional Database: MEDLINE Main subject: Retinoblastoma / Developmental Disabilities / Retinoblastoma Protein / Chromosome Deletion / Germ-Line Mutation / Retinal Neoplasms / Alleles / Intellectual Disability Type of study: Diagnostic_studies Limits: Child / Female / Humans Language: En Journal: Genet Couns Journal subject: ETICA / GENETICA MEDICA Year: 2011 Document type: Article