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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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Dades bibliogràfiques
Publicat a:Eur J Endocrinol
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: 2015
Matèries:
Accés en línia: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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