De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome
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DOI: 10.1016/j.ymgmr.2018.06.001
Abstract: 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… read more here.
Keywords: wells syndrome; fatigue somnolence; nlrp3 mutations; muckle wells ... See more keywords