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

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

ABSTRACT 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...

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Bibliographic Details
Main Authors: Renata C. Scalco, Fernanda T. Gonçalves, Hadassa C. Santos, Mari M. S. G. Cardena, Carlos A. Tonelli, Mariana F. A. Funari, Rosana M. Aracava, Alexandre C. Pereira, Cintia Fridman, Alexander A. L. Jorge
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2017-06-01
Series:Genetics and Molecular Biology
Subjects:
founder effect
growth hormone insensitivity
immune dysfunction
STAT5B
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000300436&lng=en&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000300436&lng=en&tlng=en

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