%0 Journal Article
%T Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein¨CTaybi Syndrome Phenotype: A Case Report of a Saudi Boy
%A Al-Hassnan
%A Zuhair N.
%A Al-Qattan
%A Mohammad M.
%A Alsufayan
%A Faris A. S.
%A Jarman
%A Abdulaziz
%A Mahabbat
%A Nehal
%A Rafique
%A Atif
%A Rahbeeni
%A Zuhair A.
%J -
%D 2020
%R https://doi.org/10.1155/2020/6143050
%X The classic Rubinstein¨CTaybi syndrome Type 1 (RSTS1, OMIM 180849) is caused by heterozygous mutations or deletions of the CREBBP gene. Herein, we describe the case of a Saudi boy with chromosome 16p13.3 contiguous gene deletion syndrome (OMIM 610543) including the SLX4, DNASE1, TRAP1, and CREBBP genes, but presenting with a relatively mild RSTS1 syndrome phenotype. Compared with previously reported cases with severe phenotypes associated with 16p13.3 contiguous gene deletions, our patient had partial deletion of the CREBBP gene (with a preserved 5¡ä region), which might explain his relatively mild phenotype
%U https://www.hindawi.com/journals/crig/2020/6143050/