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PCDH19‐related epileptic encephalopathy in a male mosaic for a truncating variant
Authors:Isabelle Thiffault  Emily Farrow  Laurie Smith  Jennifer Lowry  Lee Zellmer  Benjamin Black  Ahmed Abdelmoity  Neil Miller  Sarah Soden  Carol Saunders
Affiliation:1. Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri;2. Department of Pathology and Laboratory Medicine, Children's Mercy Hospitals, Kansas City, Missouri;3. University of Missouri—Kansas City School of Medicine, Kansas City, Missouri;4. Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina;5. Individualized Pediatric Therapeutic Medicine Clinic, Children's Mercy Hospital, Kansas City, Missouri;6. Department of Pediatrics, Children's Mercy Hospital, Kansas City, Missouri;7. Correspondence to:;8. Carol Saunders, Children's Mercy Kansas City, Center for Pediatric Genomic Medicine, 2420 Pershing Road, Kansas City, MO 64108.;9. E‐mail:
Abstract:
Keywords:PCDH19  epileptic encephalopathy  developmental disorders  behavioral disorders  somatic mosaicism  dysmorphic features
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