A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus.
Saved in:
| Title: | A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus. |
|---|---|
| Authors: | Diets IJ; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., Prescott T; Department of Medical Genetics, Telemark Hospital, Ulefossveien, Skien, Norway., Champaigne NL; Greenwood Genetic Center, Greenwood, South Carolina, USA., Mancini GMS; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Krossnes B; Department of Pathology, Oslo University Hospital, the Norwegian Radium Hospital, Oslo, Norway., Frič R; Section for Paediatric Neurosurgery and Craniofacial Surgery, Department of Neurosurgery, Oslo University Hospital - Rikshospitalet, Oslo, Norway., Kocsis K; Children's Hospital Colorado, University of Colorado, Department of Clinical Genetics and Metabolism, Aurora, Colorado, USA., Jongmans MCJ; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Kleefstra T; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands. tjitske.kleefstra@radboudumc.nl.; Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen, Nijmegen, The Netherlands. tjitske.kleefstra@radboudumc.nl. |
| Source: | Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Mar; Vol. 21 (3), pp. 572-579. Date of Electronic Publication: 2018 Jun 15. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
Be the first to leave a comment!
