Delayed diagnosis of tuberous sclerosis complex: unveiling low-level TSC2 mosaicism using targeted next-generation sequencing

Affiliations

• ¹ Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
• ² National Institute of Cancer Research, National Health Research Institutes, Tainan, Taiwan.
• ³ Department of Oncology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
• ⁴ Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
• ⁵ Graduate Institute of Medical Genomics and Proteomics, National Taiwan University, Taipei, Taiwan.
• ⁶ St John's Institute of Dermatology, School of Basic & Medical Biosciences, King's College London, London, UK.
• ⁷ International Research Center of Wound Repair and Regeneration (iWRR), National Cheng Kung University, Tainan, Taiwan.
• ⁸ Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.