Log in to save to my catalogue

Genotype-phenotype correlations in patients with Retinoblastoma and an interstitial 13q deletion

Genotype-phenotype correlations in patients with Retinoblastoma and an interstitial 13q deletion

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_00633984v1

Genotype-phenotype correlations in patients with Retinoblastoma and an interstitial 13q deletion

About this item

Full title

Genotype-phenotype correlations in patients with Retinoblastoma and an interstitial 13q deletion

Publisher

Nature Publishing Group

Journal title

European journal of human genetics : EJHG, 2011-04

Language

English

Formats

Publication information

Publisher

Nature Publishing Group

More information

Scope and Contents

Contents

Patients with an interstitial 13q deletion that contains the RB1 gene show retinoblastoma and variable clinical features. Relations between phenotypic expression and loss of specific neighboring genes are unresolved, yet. We obtained clinical, cytogenetic and molecular data in 63 patients with an interstitial 13q deletion involving RB1. Whole genom...

Alternative Titles

Full title

Genotype-phenotype correlations in patients with Retinoblastoma and an interstitial 13q deletion

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_hal_primary_oai_HAL_hal_00633984v1

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_00633984v1

Other Identifiers

ISSN

1018-4813

E-ISSN

1476-5438

DOI

10.1038/ejhg.2011.58

How to access this item