دورية أكاديمية
Genetics, genomics, and genotype–phenotype correlations of TSC : Insights for clinical practice
| العنوان: | Genetics, genomics, and genotype–phenotype correlations of TSC : Insights for clinical practice |
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| المؤلفون: | Peron A., Au K. S., Northrup H. |
| المساهمون: | A. Peron, K.S. Au, H. Northrup |
| بيانات النشر: | Wiley |
| سنة النشر: | 2018 |
| المجموعة: | The University of Milan: Archivio Istituzionale della Ricerca (AIR) |
| مصطلحات موضوعية: | genetic counseling, genetics of TSC, genotype–phenotype correlation, TSC1, TSC2, tuberous sclerosis complex (TSC), Genetic Association Studie, Genetic Testing, Human, Mosaicism, Mutation, Pedigree, Precision Medicine, TOR Serine-Threonine Kinase, Tuberous Sclerosi, Tuberous Sclerosis Complex 1 Protein, Tuberous Sclerosis Complex 2 Protein, Settore MED/03 - Genetica Medica |
| الوصف: | Tuberous Sclerosis Complex (TSC) is a multisystem autosomal dominant condition caused by inactivating pathogenic variants in either the TSC1 or the TSC2 gene, leading to hyperactivation of the mTOR pathway. Here, we present an update on the genetic and genomic aspects of TSC, with a focus on clinical and laboratory practice. We briefly summarize the structure of TSC1 and TSC2 as well as their protein products, and discuss current diagnostic testing, addressing mosaicism. We consider genotype–phenotype correlations as an example of precision medicine, and discuss genetic counseling in TSC, with the aim of providing geneticists and health care practitioners involved in the care of TSC individuals with useful tools for their practice. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/30255984; info:eu-repo/semantics/altIdentifier/wos/WOS:000448788500003; volume:178; issue:3; firstpage:281; lastpage:290; numberofpages:10; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS; http://hdl.handle.net/2434/760064Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85053903775 |
| DOI: | 10.1002/ajmg.c.31651 |
| الإتاحة: | https://doi.org/10.1002/ajmg.c.31651Test http://hdl.handle.net/2434/760064Test |
| حقوق: | info:eu-repo/semantics/closedAccess |
| رقم الانضمام: | edsbas.D6C003FB |
| قاعدة البيانات: | BASE |
| DOI: | 10.1002/ajmg.c.31651 |
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