Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein- Taybi Syndrome Phenotype: A Case Report of a Saudi Boy. - Document

PDF] Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy

M M Al-Qattan's research works King Saud University, Riyadh (KKUH) and other places

M M Al-Qattan's research works King Saud University, Riyadh (KKUH) and other places

A de novo direct duplication of 16q22.1 → q23.1 in a boy with midface hypoplasia and mental retardation - Tokutomi - 2009 - American Journal of Medical Genetics Part A - Wiley Online Library

Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene

The t(11;16)(q23;p13) Translocation in Myelodysplastic Syndrome Fuses the MLL Gene to the CBP Gene - ScienceDirect

Intellectual disability secondary to a 16p13 duplication in a 1;16 translocation. Extended phenotype in a four‐generation family - Mohamed - 2015 - American Journal of Medical Genetics Part A - Wiley Online Library

Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome

Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome

PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy

PDF) Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: A case report

Rahbeeni ZUHAIR, King Faisal Specialist Hospital and Research Centre, Riyadh, KFSHRC, Medical Genetics Department

16p13.3 microduplication syndrome: A new characteristic case without intellectual disability - ScienceDirect

Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth, Molecular Cytogenetics