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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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Dettagli Bibliografici
Pubblicato in:Int J Mol Sci
Autori principali: Mencarelli, Annalisa, Prontera, Paolo, Mencarelli, Amedea, Rogaia, Daniela, Stangoni, Gabriela, Cecconi, Massimiliano, Esposito, Susanna
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2018
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6213993/
https://ncbi.nlm.nih.gov/pubmed/30332768
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms19103189
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