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SUN-049 Growth Hormone Deficiency Associated with a Rare Overgrowth Syndrome

Background: The Megalencephaly Capillary Malformation syndrome (MCAP) is a genetic overgrowth disorder characterized by brain overgrowth, polymicrogyria, vascular malformations, and segmental somatic overgrowth secondary to activating mutations in the PI3K-AKT-mTOR pathway (PIK3CA). Congenital macro...

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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: Davis, Shanlee, Michels, Savannah, Mirzaa, Ghayda
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6553319/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SUN-049
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