Evidence of somatic and germinal mosaicism in pseudo-low-penetrant hereditary retinoblastoma, by constitutional and single-sperm mutation analysis.
Munier
F L
FL
Thonney
F
F
Girardet
A
A
Balmer
A
A
Claustre
M
M
Pellestor
F
F
Senn
A
A
Pescia
G
G
Schorderet
D F
DF
D004252:DNA Mutational Analysis; D005260:Female; D016161:Genes, Retinoblastoma; D005838:Genotype; D006801:Humans; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D019683:Penetrance; D019572:Retinal Neoplasms / Q000235:genetics; D012175:Retinoblastoma / Q000235:genetics*; D013094:Spermatozoa