Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases

BACKGROUND: Bloom syndrome (BS) is a rare autosomal recessive chromosome instability disorder. The main clinical manifestations are growth deficiency, telangiectasic facial erythema, immunodeficiency, and increased risk to develop neoplasias at early age. Cytogenetic test for sister chromatid exchan...

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Detalles Bibliográficos
Autores principales: Montenegro, Marilia M., Quaio, Caio R., Palmeira, Patricia, Gasparini, Yanca, Rangel‐Santos, Andreia, Damasceno, Julian, Novak, Estela M., Gimenez, Thamires M., Yamamoto, Guilherme L., Ronjo, Rachel S., Novo‐Filho, Gil M., Chehimi, Samar N., Zanardo, Evelin A., Dias, Alexandre T., Nascimento, Amom M., Costa, Thais V. M. M., Duarte, Alberto J. da S., Coutinho, Luiz L., Kim, Chong A., Kulikowski, Leslie D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196489/
https://www.ncbi.nlm.nih.gov/pubmed/32073752
http://dx.doi.org/10.1002/mgg3.1133

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