Low‐level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways
Author:
Affiliation:
1. Institute of Human Genetics Medical University of Innsbruck Innsbruck Austria
2. Institute of Medical Genetics, Kepler University Hospital Johannes Kepler University Linz Austria
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62433
Reference16 articles.
1. Minimal mosaicism, maximal phenotype: Discordance between clinical and molecular findings in two patients with tuberous sclerosis
2. Tuberous sclerosis
3. Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants
4. Nomenclature for the description of human sequence variations
5. Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission
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