Introduction of a Variant Classification System for Analysis of Genotype-Phenotype Relationships in Heritable Retinoblastoma

Introduction of a Variant Classification System for Analysis of Genotype-Phenotype Relationships in Heritable Retinoblastoma

Constitutional haploinsufficiency of the <i>RB1</i> gene causes heritable retinoblastoma, a tumor predisposition syndrome. Patients with heritable retinoblastoma develop multiple retinoblastomas early in childhood and other extraocular tumors later in life. Constitutional pathogenic vari...

Full description

Bibliographic Details
Main Authors: Isabel Hülsenbeck, Mirjam Frank, Eva Biewald, Deniz Kanber, Dietmar R. Lohmann, Petra Ketteler
Format: Article
Language:English
Published: MDPI AG 2021-03-01
Series:Cancers
Subjects:
tumor predisposition syndrome
heritable retinoblastoma
pRB
<i>RB1</i> gene
splice-site variants
classification
Online Access:https://www.mdpi.com/2072-6694/13/7/1605

Internet

https://www.mdpi.com/2072-6694/13/7/1605

Similar Items