A novel immunodeficiency syndrome associated with partial trisomy 19p13

BACKGROUND: Subtelomeric deletions and duplications may cause syndromic disorders that include features of immunodeficiency. To date, no phenotype of immunological pathology has been linked to partial trisomy 19. We report here on two unrelated male patients showing clinical and laboratory signs of...

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Detalles Bibliográficos
Autores principales: Seidel, Markus G, Duerr, Celia, Woutsas, Stavroula, Schwerin-Nagel, Anette, Sadeghi, Kambis, Neesen, Jürgen, Uhrig, Sabine, Santos-Valente, Elisangela, Pickl, Winfried F, Schwinger, Wolfgang, Urban, Christian, Boztug, Kaan, Förster-Waldl, Elisabeth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2014
Materias:
Chromosomal Rearrangements
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3963557/
https://www.ncbi.nlm.nih.gov/pubmed/24431329
http://dx.doi.org/10.1136/jmedgenet-2013-102122

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3963557/
https://www.ncbi.nlm.nih.gov/pubmed/24431329
http://dx.doi.org/10.1136/jmedgenet-2013-102122

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