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

Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?, Molecular Cytogenetics

Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly

A representative G-banded partial karyotype of chromosomes 16 and 19

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

t(10;16)(q22;p13) KAT6B/CREBBP

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

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

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

16p subtelomeric duplication: a clinically recognizable syndrome

16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance, Molecular Cytogenetics