Genotype–phenotype correlations in patients with retinoblastoma and interstitial 13q deletions
✍ Scribed by Mitter, Diana; Ullmann, Reinhard; Muradyan, Artur; Klein-Hitpaß, Ludger; Kanber, Deniz; Õunap, Katrin; Kaulisch, Marc; Lohmann, Dietmar
- Book ID
- 109849501
- Publisher
- Nature Publishing Group
- Year
- 2011
- Tongue
- English
- Weight
- 900 KB
- Volume
- 19
- Category
- Article
- ISSN
- 1018-4813
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## Communicated by Georgia Chenevix-Trench We studied 50 unrelated pedigrees with a family history of retinoblastoma (Rb) (165 carriers of a RB1 mutation) to delineate the spectrum of RB1 germline mutations in familial Rb and to identify genotype-phenotype correlations as well as putative modifier