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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Dades bibliogràfiques
Publicat a:NPJ Genom Med
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2017
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5482711/
https://ncbi.nlm.nih.gov/pubmed/28649445
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-017-0020-9
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