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

The classic Rubinstein–Taybi 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 gen...

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Detalhes bibliográficos
Publicado no:Case Rep Genet
Main Authors: Al-Qattan, Mohammad M., Rahbeeni, Zuhair A., Al-Hassnan, Zuhair N., Jarman, Abdulaziz, Rafique, Atif, Mahabbat, Nehal, Alsufayan, Faris A. S.
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7064822/
https://ncbi.nlm.nih.gov/pubmed/32181026
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/6143050
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