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

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

A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism—a case report and literature review of the partial 16p13.3 trisomy syndrome

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

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

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

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

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

Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability, Molecular Cytogenetics

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

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

16p subtelomeric duplication: a clinically recognizable syndrome

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