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.

Autor: Al-Qattan MM; Division of Plastic Surgery, King Saud University, Riyadh, Saudi Arabia.; Division of Plastic Surgery, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Rahbeeni ZA; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al-Hassnan ZN; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Jarman A; Division of Plastic Surgery, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Rafique A; Division of Plastic Surgery, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Mahabbat N; Division of Plastic Surgery, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alsufayan FAS; Prince Mohammed Bin Abdulaziz Hospital, Riyadh, Saudi Arabia.

Publikováno v: Case reports in genetics [Case Rep Genet] 2020 Jan 09; Vol. 2020, pp. 6143050. Date of Electronic Publication: 2020 Jan 09 (Print Publication: 2020).