An Amino Acid Deletion in SZT2 in a Family with Non-Syndromic Intellectual Disability

Autosomal recessive intellectual disability (ID) is characterized by extensive genetic heterogeneity. Recently, three mutations in SZT2 were reported in two unrelated children with unexplained infantile epileptic encephalopathy with severe ID. Here we report a European American family with three chi...

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Detalles Bibliográficos
Autores principales: Falcone, Michelle, Yariz, Kemal O., Ross, David B., Foster, Joseph, Menendez, Ibis, Tekin, Mustafa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3855772/
https://www.ncbi.nlm.nih.gov/pubmed/24324832
http://dx.doi.org/10.1371/journal.pone.0082810

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3855772/
https://www.ncbi.nlm.nih.gov/pubmed/24324832
http://dx.doi.org/10.1371/journal.pone.0082810

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