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- W1578076170 abstract "Background We report here our discovery and whole genome sequencing (WGS) analysis of a family with dominantly inherited familial dysautonomia (Figure 1). The mother is affected with dysautonomia, hereditary hemochromatosis, and obsessive compulsive traits. The oldest daughter reports severe dysautonomic syncopal episodes, gastroparesis, glaucoma, visual and auditory hallucinations, urinary retention, and one prior stroke. One son is affected with dysautonomia, Tourette syndrome (TS), attention deficit disorder (ADD), and obsessive-compulsive disorder (OCD). Another son reports dysautonomia, asthma, seizure in response to pertussis, dyslexia, migraine, dysgraphia, ADD, sensory integration disorder, and arthritis. 1Stanley Institute for Cognitive Genomics, One Bungtown Road, Cold Spring Harbor Laboratory, NY, USA; 2Stony Brook University, 100 Nicolls Rd, Stony Brook, NY, USA; 3Utah Foundation for Biomedical Research, E 3300 S, Salt Lake City, Salt Lake City, UT, USA; 4Virginia Bioinformatics Institute, Virginia Tech, Blacksburg, VA 24061, USA, 5Department of Biological Sciences, Virginia Tech, Blacksburg, VA 24061, USA." @default.
- W1578076170 created "2016-06-24" @default.
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- W1578076170 date "2013-11-01" @default.
- W1578076170 modified "2023-09-27" @default.
- W1578076170 title "Whole genome sequencing analysis of a family with familial dysautonomia and neuropsychiatric symptoms" @default.
- W1578076170 hasPublicationYear "2013" @default.
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