Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

The etiology of intellectual disability (ID) is heterogeneous including a variety of genetic and environmental causes. Historically, most research has not focused on autosomal recessive ID (ARID), which is a significant cause of ID, particularly in areas where parental consanguinity is common. Ident...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: McSherry, Megan, Masih, Katherine E., Elcioglu, Nursel H., Celik, Pelin, Balci, Ozge, Cengiz, Filiz Basak, Nunez, Daniella, Sineni, Claire J., Seyhan, Serhat, Kocaoglu, Defne, Guo, Shengru, Duman, Duygu, Bademci, Guney, Tekin, Mustafa
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2018
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6267965/
https://ncbi.nlm.nih.gov/pubmed/30500859
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0208324
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