Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndrome

We report two brothers with severe global cognitive and motor delay, cortical visual impairment and sick sinus syndrome who were born to consanguineous parents. Standard genetic evaluations did not reveal the cause of their mental retardation. As expected, chromosomal microarray (CMA) revealed exten...

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Detalles Bibliográficos
Autores principales: Yazdani, Shahram, Badjatiya, Anish, Dorrani, Naghmeh, Lee, Hane, Grody, Wayne W., Nelson, Stanley F., Dipple, Katrina M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7138921/
https://www.ncbi.nlm.nih.gov/pubmed/32280589
http://dx.doi.org/10.1016/j.ymgmr.2020.100582

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7138921/
https://www.ncbi.nlm.nih.gov/pubmed/32280589
http://dx.doi.org/10.1016/j.ymgmr.2020.100582

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