De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome

Complex phenotypes may represent novel syndromes that are the composite interaction of several genetic and environmental factors. We describe an 9-year old male with high functioning autism spectrum disorder and Muckle-Wells syndrome who at age 5  years of age manifested perseverations that interfer...

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Detalles Bibliográficos
Autores principales: Torres, Alcy, Brownstein, Catherine A., Tembulkar, Sahil K., Graber, Kelsey, Genetti, Casie, Kleiman, Robin J., Sweadner, Kathleen J., Mavros, Chrystal, Liu, Kevin X., Smedemark-Margulies, Niklas, Maski, Kiran, Yang, Edward, Agrawal, Pankaj B., Shi, Jiahai, Beggs, Alan H., D'Angelo, Eugene, Lincoln, Sarah Hope, Carroll, Devon, Dedeoglu, Fatma, Gahl, William A., Biggs, Catherine M., Swoboda, Kathryn J., Berry, Gerard T., Gonzalez-Heydrich, Joseph
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6005789/
https://www.ncbi.nlm.nih.gov/pubmed/29922587
http://dx.doi.org/10.1016/j.ymgmr.2018.06.001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6005789/
https://www.ncbi.nlm.nih.gov/pubmed/29922587
http://dx.doi.org/10.1016/j.ymgmr.2018.06.001

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