Article
[STAT5B deficiency: a new growth hormone insensitivity syndrome associated to immunological dysfunction].
Arquivos brasileiros de endocrinologia e metabologia - 1 Jul 2013
Scalco Renata C, Pugliese-Pires Patrícia N, Jorge Alexander A L
Abstract excerpt
A new presentation of growth hormone insensitivity (GHI) caused by homozygous mutations in STAT5B (signal transducer and activator of transcription 5B) gene has been characterized in the last years. Its particularity is the association with severe immune dysfunction, especially with lymphocytic i...
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