NOD2 mosaicism in Blau syndrome

@inproceedings{MensaVilar2015NOD2MI,
  title={NOD2 mosaicism in Blau syndrome},
  author={Anna Mensa-Vilar{\'o} and Jaime de Inocencio and Weng Tarng Cham and Eva Gonz{\'a}lez-Roca and Pilar Tejada-Palacios and Swee Ping Tang and Est{\'i}baliz Ru{\'i}z-Ortiz and Eugenia Enr{\'i}quez-Merayo and Sern Chin Lim and Giuliana Magri and Susana Plaza and MC Anton and Andrea Cerutti and Roziana Ariffin and Jordi Yag{\"u}e and Juan Manuel Moreno Ar{\'o}stegui},
  year={2015}
}
Introduction Gene mosaicism describes an individual who has developed from a single zygote and has two or more cell types with distinct genotypes. Three major types of mosaicism have been described and are referred as gonadal, somatic and gonosomic mosaicism. They mainly differ on the body distribution of the somatic mutation and in their clinical consequences. The recent use of next-generation sequencing technologies is revealing the relevant role of gene mosaicism in various diseases other… CONTINUE READING
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