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

Sotos syndrome is one of the most common overgrowth diseases and it predisposes patients to cancer, generally in childhood. The prevalence of this genetic disorder is 1:10,000–1:50,000, and it is characterized by wide allelic heterogeneity, with more than 100 different known mutations in the nuclear...

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Detalles Bibliográficos
Autores principales: Mencarelli, Annalisa, Prontera, Paolo, Mencarelli, Amedea, Rogaia, Daniela, Stangoni, Gabriela, Cecconi, Massimiliano, Esposito, Susanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6213993/
https://www.ncbi.nlm.nih.gov/pubmed/30332768
http://dx.doi.org/10.3390/ijms19103189

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6213993/
https://www.ncbi.nlm.nih.gov/pubmed/30332768
http://dx.doi.org/10.3390/ijms19103189

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