Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation

Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation

Severe growth hormone insensitivity syndrome (GHIS) with immunodeficiency is caused by autosomal recessive mutations in STAT5B. Here the authors report heterozygous STAT5B mutations with dominant-negative effects, causing mild GHIS without immune defects.

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Auteurs principaux: Jürgen Klammt, David Neumann, Evelien F. Gevers, Shayne F. Andrew, I. David Schwartz, Denise Rockstroh, Roberto Colombo, Marco A. Sanchez, Doris Vokurkova, Julia Kowalczyk, Louise A. Metherell, Ron G. Rosenfeld, Roland Pfäffle, Mehul T. Dattani, Andrew Dauber, Vivian Hwa
Format: article
Langue:EN
Publié: Nature Portfolio 2018
Sujets:
Science
Q
Accès en ligne:https://doaj.org/article/2f6935ea40d3432bb5ef0a1b2cc1c995
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