STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability

CONTEXT AND OBJECTIVE: Growth hormone insensitivity with immune dysfunction caused by signal transducer and activator of transcription 5B (STAT5B) mutations is an autosomal recessive condition. Heterozygous mutations in other genes involved in growth regulation were previously associated with a mild...

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Pubblicato in:Eur J Endocrinol
Autori principali: Scalco, Renata C, Hwa, Vivian, Domené, Horacio M., Jasper, Héctor G., Belgorosky, Alicia, Marino, Roxana, Pereira, Alberto M., Tonelli, Carlos A., Wit, Jan M., Rosenfeld, Ron G., Jorge, Alexander A.L.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2015
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4898761/
https://ncbi.nlm.nih.gov/pubmed/26034074
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EJE-15-0398
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