Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New “c.[5867T>A]+[=]”; “p.[Leu1956Gln]+[=]” NSD1 Missense Mutation and Complex Skin Hamartoma
Abstract
:1. Introduction
Case Report
2. Materials and Methods
2.1. Laboratory and Instrumental Analyses
2.2. Ethics Committee Approval
2.3. Genetic Analyses
3. Discussion
4. Conclusions
Author Contributions
Funding
Conflicts of Interest
References
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Features | Sotos Syndrome | Tuberous Sclerosis |
---|---|---|
Somatic overgrowth | +++ | − |
Macrocephaly | ++ | − |
Facial findings | ++ | − |
Brain malformations | ++ | ++ |
Seizures | +/− | +++ |
Increased tumorigenesis | ++ | ++ |
Multiple Hamartomas | − | ++ |
Hypomelanotic macules | − | +++ |
Learning disabilities | ++ | ++ |
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Mencarelli, A.; Prontera, P.; Mencarelli, A.; Rogaia, D.; Stangoni, G.; Cecconi, M.; Esposito, S. Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New “c.[5867T>A]+[=]”; “p.[Leu1956Gln]+[=]” NSD1 Missense Mutation and Complex Skin Hamartoma. Int. J. Mol. Sci. 2018, 19, 3189. https://doi.org/10.3390/ijms19103189
Mencarelli A, Prontera P, Mencarelli A, Rogaia D, Stangoni G, Cecconi M, Esposito S. Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New “c.[5867T>A]+[=]”; “p.[Leu1956Gln]+[=]” NSD1 Missense Mutation and Complex Skin Hamartoma. International Journal of Molecular Sciences. 2018; 19(10):3189. https://doi.org/10.3390/ijms19103189
Chicago/Turabian StyleMencarelli, Annalisa, Paolo Prontera, Amedea Mencarelli, Daniela Rogaia, Gabriela Stangoni, Massimiliano Cecconi, and Susanna Esposito. 2018. "Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New “c.[5867T>A]+[=]”; “p.[Leu1956Gln]+[=]” NSD1 Missense Mutation and Complex Skin Hamartoma" International Journal of Molecular Sciences 19, no. 10: 3189. https://doi.org/10.3390/ijms19103189
APA StyleMencarelli, A., Prontera, P., Mencarelli, A., Rogaia, D., Stangoni, G., Cecconi, M., & Esposito, S. (2018). Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New “c.[5867T>A]+[=]”; “p.[Leu1956Gln]+[=]” NSD1 Missense Mutation and Complex Skin Hamartoma. International Journal of Molecular Sciences, 19(10), 3189. https://doi.org/10.3390/ijms19103189