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
CP
Chen
L-Y
LY
Kao
Y-N
YN
Su
M
M
Chen
S-D
SD
Chang
W
W
Wang
D000483:Alleles; D002648:Child; D002872:Chromosome Deletion; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D010641:Phenotype; D019572:Retinal Neoplasms / Q000175:diagnosis / Q000235:genetics*; D012175:Retinoblastoma / Q000175:diagnosis / Q000235:genetics*; D016160:Retinoblastoma Protein / Q000235:genetics*
D016160:Retinoblastoma Protein