Detection of TSC1 / TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid‐capture next‐generation sequencing-Reference-Cited by-同舟云学术

Detection of TSC1 / TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid‐capture next‐generation sequencing

Published:2021-09-04 Issue:10 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Wang Siyu¹²^ORCID,Sun Hairui¹³^ORCID,Wang Jianbin⁴,Gu Xiaoyan¹,Han Lu⁵,Wu Yuduo¹⁵,Yan He⁶,Han Ling⁷,Zhang Hongjia⁵,He Yihua¹

Affiliation:

1. Department of Echocardiography Beijing An Zhen HospitalCapital Medical University Beijing China

2. Department of Medical Ultrasonics Beijing Chao Yang HospitalCapital Medical University Beijing China

3. School of Biological Science and Medica Engineering Beihang University Beijing China

4. College of Life Science Tsinghua University Beijing China

5. Cardiac Surgery Department Beijing An Zhen HospitalCapital Medical University Beijing China

6. Bijoux Healthcare company Beijing China

7. Department of Pediatrics Beijing An Zhen HospitalCapital Medical University Beijing China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1802

Reference28 articles.

1. Germ-Line Mutational Analysis of the TSC2 Gene in 90 Tuberous-Sclerosis Patients

2. Exonic Mutations ofTSC2/TSC1Are Common but Not Seen in All Sporadic Pulmonary Lymphangioleiomyomatosis

3. Phenotypic Characterization of Disseminated Cells withTSC2Loss of Heterozygosity in Patients with Lymphangioleiomyomatosis

4. Distinct clinical characteristics of Tuberous Sclerosis Complex patients with no mutation identified

5. Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis

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1. The Impact of Chromosomal Mosaicisms on Prenatal Diagnosis and Genetic Counseling—A Narrative Review;Journal of Personalized Medicine;2024-07-21

2. Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature;European Journal of Human Genetics;2024-05-28

3. The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions;Genes;2024-03-04

4. Current status and challenges in prenatal and neonatal screening, diagnosis, and management of congenital heart disease in China;The Lancet Child & Adolescent Health;2023-07