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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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Bibliographische Detailangaben
Veröffentlicht in:Int J Mol Sci
Hauptverfasser: Mencarelli, Annalisa, Prontera, Paolo, Mencarelli, Amedea, Rogaia, Daniela, Stangoni, Gabriela, Cecconi, Massimiliano, Esposito, Susanna
Format: Artigo
Sprache:Inglês
Veröffentlicht: MDPI 2018
Schlagworte:
Online Zugang: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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