Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex
Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex
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Publisher
Switzerland: MDPI AG
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Language
English
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Publisher
Switzerland: MDPI AG
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Contents
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by multiple dysplastic organ lesions and neuropsychiatric symptoms, caused by loss of function mutations in either TSC1 or TSC2. Genotype and phenotype analyses are conducted worldwide, but there have been few large-scale studies on Japanese patients, and there are sti...
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Full title
Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9569560
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9569560
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ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms231911175
