ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing()

In this report, we describe two adult brothers affected by moderate non-specific intellectual disability (ID). They showed minor facial anomalies, not clearly ascribable to any specific syndromic patterns, microcephaly, brachydactyly and broad toes. Both brothers presented seizures. Karyotype, subte...

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Detalles Bibliográficos
Autores principales: Moncini, S., Bedeschi, M.F., Castronovo, P., Crippa, M., Calvello, M., Garghentino, R.R., Scuvera, G., Finelli, P., Venturin, M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2013
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4205036/
https://www.ncbi.nlm.nih.gov/pubmed/25606380
http://dx.doi.org/10.1016/j.mgene.2013.09.004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4205036/
https://www.ncbi.nlm.nih.gov/pubmed/25606380
http://dx.doi.org/10.1016/j.mgene.2013.09.004

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