Digital Gangrene and Antiphospholipid Syndrome in a Retinoblastoma Patient with Chromosome 13q Deletion: A Case Report
Sign Up to like & getrecommendations! Published in 2023 at "Case Reports in Oncology"
DOI: 10.1159/000530182
Abstract: Abstract A 19-month-old girl with Cornelia de Lange-like dysmorphic features presented with left eye leukocoria. She was diagnosed with 13q deletion retinoblastoma grade 4 with high-risk features and bone marrow involvement. She underwent enucleation, and… read more here.
Keywords: digital gangrene; retinoblastoma; gangrene; 13q deletion ... See more keywords
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay
Sign Up to like & getrecommendations! Published in 2021 at "Genes"
DOI: 10.3390/genes12091318
Abstract: Retinoblastoma (RB) is an ocular tumor of the pediatric age caused by biallelic inactivation of the RB1 gene (13q14). About 10% of cases are due to gross-sized molecular deletions. The deletions can involve the surrounding… read more here.
Keywords: 13q deletion; involving rb1; psychomotor delay; region ... See more keywords