A Case of DeSanto-Shinawi Syndrome in Bahrain with a Novel Mutation

DeSanto-Shinawi syndrome is a rare genetic condition caused by loss-of-function mutation in WAC. It is characterized by dysmorphic features, intellectual disability, and behavioral abnormalities. In this case report, we describe the clinical features and genotype of a patient with a novel mutation 1...

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Detalles Bibliográficos
Autores principales: Alsahlawi, Zahra, Jailani, Mohamed, Alaradi, Husain, AlAbbad, Abdulaziz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7585648/
https://www.ncbi.nlm.nih.gov/pubmed/33123400
http://dx.doi.org/10.1155/2020/8820966

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7585648/
https://www.ncbi.nlm.nih.gov/pubmed/33123400
http://dx.doi.org/10.1155/2020/8820966

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