Articles with "gln227leu mutation" as a keyword



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GH/PRL-secreting pituitary macroadenoma associated with GNAS p.Gln227Leu mutation: pediatric case report and review.

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Published in 2019 at "Endocrine journal"

DOI: 10.1507/endocrj.ej18-0370

Abstract: GH-secreting pituitary adenomas (GHomas) are rare in the pediatric population. Guanine nucleotide-binding protein, alpha stimulating (GNAS) somatic mutations are often found in patients with GHoma. Here, we report an 8-year-old girl with GH-secreting pituitary adenoma… read more here.

Keywords: gln227leu mutation; pediatric case; secreting pituitary; report ... See more keywords