Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report

BACKGROUND: Rubinstein-Taybi syndrome (RSTS) Type 1 (OMIM 180849) is characterized by three main features: intellectual disability; broad and frequently angulated thumbs and halluces; and characteristic facial dysmorphism. CASE PRESENTATION: We report on a Saudi boy with RSTS Type 1 and the followin...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Al-Qattan, Mohammad M., Jarman, Abdulaziz, Rafique, Atif, Al-Hassnan, Zuhair N., Al-Qattan, Heba M.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6330443/
https://ncbi.nlm.nih.gov/pubmed/30635043
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0747-5
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