Analysis of Genotypes and Phenotypes in Chinese Patients With Tuberous Sclerosis Complex Harboring Novel Variants of TSC1 and TSC2 Genes
Conclusions: This study broadens the spectrum of variants of TSC1 and TSC2 genes, reaffirming the clinical diagnosis of patients through genetic testing.
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| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2025-01-01
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| Series: | International Journal of Genomics |
| Online Access: | http://dx.doi.org/10.1155/ijog/6963280 |
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| _version_ | 1849321729816526848 |
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| author | Jian Chen Hairui Sun Ling Han Xiaoyan Gu Xiaoyan Hao Yuwei Fu Zongjie Weng Yi Xiong Baomin Liu Hongjia Zhang Yihua He Hong Li |
| author_facet | Jian Chen Hairui Sun Ling Han Xiaoyan Gu Xiaoyan Hao Yuwei Fu Zongjie Weng Yi Xiong Baomin Liu Hongjia Zhang Yihua He Hong Li |
| author_sort | Jian Chen |
| collection | DOAJ |
| description | Conclusions: This study broadens the spectrum of variants of TSC1 and TSC2 genes, reaffirming the clinical diagnosis of patients through genetic testing. |
| format | Article |
| id | doaj-art-87a650acf1f94c9cad9dc41d2a0133a5 |
| institution | Kabale University |
| issn | 2314-4378 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Genomics |
| spelling | doaj-art-87a650acf1f94c9cad9dc41d2a0133a52025-08-20T03:49:41ZengWileyInternational Journal of Genomics2314-43782025-01-01202510.1155/ijog/6963280Analysis of Genotypes and Phenotypes in Chinese Patients With Tuberous Sclerosis Complex Harboring Novel Variants of TSC1 and TSC2 GenesJian Chen0Hairui Sun1Ling Han2Xiaoyan Gu3Xiaoyan Hao4Yuwei Fu5Zongjie Weng6Yi Xiong7Baomin Liu8Hongjia Zhang9Yihua He10Hong Li11Department of EchocardiographyMaternal-Fetal Consultation Center of Congenital Heart DiseaseMaternal-Fetal Consultation Center of Congenital Heart DiseaseMaternal-Fetal Consultation Center of Congenital Heart DiseaseMaternal-Fetal Consultation Center of Congenital Heart DiseaseMaternal-Fetal Consultation Center of Congenital Heart DiseaseDepartment of UltrasonographyDepartment of UltrasonographyDepartment of UltrasonographyDepartment of Cardiac SurgeryMaternal-Fetal Consultation Center of Congenital Heart DiseaseDepartment of UltrasoundConclusions: This study broadens the spectrum of variants of TSC1 and TSC2 genes, reaffirming the clinical diagnosis of patients through genetic testing.http://dx.doi.org/10.1155/ijog/6963280 |
| spellingShingle | Jian Chen Hairui Sun Ling Han Xiaoyan Gu Xiaoyan Hao Yuwei Fu Zongjie Weng Yi Xiong Baomin Liu Hongjia Zhang Yihua He Hong Li Analysis of Genotypes and Phenotypes in Chinese Patients With Tuberous Sclerosis Complex Harboring Novel Variants of TSC1 and TSC2 Genes International Journal of Genomics |
| title | Analysis of Genotypes and Phenotypes in Chinese Patients With Tuberous Sclerosis Complex Harboring Novel Variants of TSC1 and TSC2 Genes |
| title_full | Analysis of Genotypes and Phenotypes in Chinese Patients With Tuberous Sclerosis Complex Harboring Novel Variants of TSC1 and TSC2 Genes |
| title_fullStr | Analysis of Genotypes and Phenotypes in Chinese Patients With Tuberous Sclerosis Complex Harboring Novel Variants of TSC1 and TSC2 Genes |
| title_full_unstemmed | Analysis of Genotypes and Phenotypes in Chinese Patients With Tuberous Sclerosis Complex Harboring Novel Variants of TSC1 and TSC2 Genes |
| title_short | Analysis of Genotypes and Phenotypes in Chinese Patients With Tuberous Sclerosis Complex Harboring Novel Variants of TSC1 and TSC2 Genes |
| title_sort | analysis of genotypes and phenotypes in chinese patients with tuberous sclerosis complex harboring novel variants of tsc1 and tsc2 genes |
| url | http://dx.doi.org/10.1155/ijog/6963280 |
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