Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal.
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| Title: | Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal. |
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| Authors: | West HD; Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University, School of Medicine, Cardiff, UK., Nellist M; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands., Brouwer RWW; Center for Biomics and Department of Cell Biology, Erasmus Medical Center, Rotterdam, Netherlands., van den Hout-van Vroonhoven MCGN; Center for Biomics and Department of Cell Biology, Erasmus Medical Center, Rotterdam, Netherlands., de Almeida LGD; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands., Hendriks F; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands., Elfferich P; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands., Raja M; Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University, School of Medicine, Cardiff, UK., Giles P; The Wales Gene Park, Division of Cancer and Genetics, Cardiff University, School of Medicine, Cardiff, UK., Alfano RM; Medical Genetics, ASST Santi Paolo e Carlo, Ospedale San Paolo, Milan, Italy., Peron A; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA., Sznajer Y; Center for Human Genetics, Cliniques Universitaires Saint-Luc, UC Louvain, Brussels, Belgium., De Waele L; Department of Pediatrics and Child Neurology, University Hospital Leuven, Leuven, Belgium., Jansen A; Department of Pediatrics, Pediatric Neurology Unit, UZ Brussel, Brussels, Belgium.; Department of Translational Neurosciences, University of Antwerp, Antwerp, Belgium., Koopmans M; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht, Netherlands., Kievit A; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands., Farach LS; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, Texas, USA., Northrup H; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, Texas, USA., Sampson JR; Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University, School of Medicine, Cardiff, UK., Thomas LE; Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University, School of Medicine, Cardiff, UK.; Institute of Life Science 1, Swansea University Medical School, Swansea, UK., van IJcken WFJ; Center for Biomics and Department of Cell Biology, Erasmus Medical Center, Rotterdam, Netherlands. |
| Source: | Human mutation [Hum Mutat] 2023 Jul 13; Vol. 2023, pp. 4899372. Date of Electronic Publication: 2023 Jul 13 (Print Publication: 2023). |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1098-1004 |
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| DOI: | 10.1155/2023/4899372 |
