Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect

Homozygous STAT5B mutations causing growth hormone insensitivity with immune dysfunction were described in 10 patients since 2003, including two Brazilian brothers from the south of Brazil. Our objectives were to evaluate the prevalence of their STAT5B mutation in this region and to analyze the pres...

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Detalles Bibliográficos
Autores principales: Scalco, Renata C., Gonçalves, Fernanda T., Santos, Hadassa C., Cardena, Mari M. S. G., Tonelli, Carlos A., Funari, Mariana F. A., Aracava, Rosana M., Pereira, Alexandre C., Fridman, Cintia, Jorge, Alexander A. L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2017
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5488464/
https://www.ncbi.nlm.nih.gov/pubmed/28590503
http://dx.doi.org/10.1590/1678-4685-GMB-2016-0231

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