Diagnosis of Mosaic Tuberous Sclerosis Complex Using Next-Generation Sequencing of Subtle or Unusual Cutaneous Findings-Reference-Cited by-同舟云学术

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Diagnosis of Mosaic Tuberous Sclerosis Complex Using Next-Generation Sequencing of Subtle or Unusual Cutaneous Findings

Published:2023-03 Issue:2 Volume:3 Page:100180
ISSN:2667-0267
Container-title:JID Innovations
language:en
Short-container-title:JID Innovations

Author:

Treichel Alison M.^ORCID,Boeszoermenyi Barbara^ORCID,Lee Chyi-Chia Richard^ORCID,Moss Joel^ORCID,Kwiatkowski David J.^ORCID,Darling Thomas N.^ORCID

Publisher

Elsevier BV

Subject

General Medicine

Reference30 articles.

1. CT of sclerotic bone lesions: imaging features differentiating tuberous sclerosis complex with lymphangioleiomyomatosis from sporadic lymphangioleiomymatosis;Avila;Radiology,2010

2. Tuberous sclerosis complex inactivation disrupts melanogenesis via mTORC1 activation;Cao;J Clin Invest,2017

3. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs;Dabora;Am J Hum Genet,2001

4. Presentation and diagnosis of tuberous sclerosis complex in infants;Davis;Pediatrics,2017

5. Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission [published correction appears in Genet Med 2021;23:2022];Giannikou;Genet Med,2019

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

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

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