Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes

Autism spectrum disorder is a developmental condition of early childhood onset, which impacts socio-communicative functioning and is principally genetic in etiology. Currently, more than 50 genomic loci are deemed to be associated with susceptibility to autism spectrum disorder, showing de novo and...

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Detalles Bibliográficos
Autores principales: Woodbury-Smith, Marc, Nicolson, Rob, Zarrei, Mehdi, Yuen, Ryan K. C., Walker, Susan, Howe, Jennifer, Uddin, Mohammed, Hoang, Ny, Buchanan, Janet A., Chrysler, Christina, Thompson, Ann, Szatmari, Peter, Scherer, Stephen W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5482711/
https://www.ncbi.nlm.nih.gov/pubmed/28649445
http://dx.doi.org/10.1038/s41525-017-0020-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5482711/
https://www.ncbi.nlm.nih.gov/pubmed/28649445
http://dx.doi.org/10.1038/s41525-017-0020-9

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