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A de novo splice site mutation in CASK causes FG syndrome‐4 and congenital nystagmus |
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| Authors: | P. Dunn G. P. Prigatano S. Szelinger J. Roth A. L. Siniard A. M. Claasen R. F. Richholt M. De Both J. J. Corneveaux A. M. Moskowitz C. Balak I. S. Piras M. Russell A. L. Courtright N. Belnap S. Rangasamy K. Ramsey J. M. Opitz D. W. Craig V. Narayanan M. J. Huentelman I. Schrauwen |
| Affiliation: | 1. Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona;2. Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona;3. Department of Clinical Neuropsychology, Barrow Neurological Institute, Dignity Health St Joseph's Hospital and Medical Center, Phoenix, Arizona;4. Department of Pediatrics/Medical Genetics, School of Medicine, University of Utah, Salt Lake City, Utah |
| Abstract: | |
| Keywords: | FGS4 FG syndrome microcephaly X‐linked intellectual disability CASK nystagmus gastrointestinal gastroesophageal |