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...

Descripción completa

Detalles Bibliográficos
Autores principales: Davis, Shanlee, Michels, Savannah, Mirzaa, Ghayda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2019
Materias:
Genetics and Development (including Gene Regulation)
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6553319/
http://dx.doi.org/10.1210/js.2019-SUN-049

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6553319/
http://dx.doi.org/10.1210/js.2019-SUN-049

Ejemplares similares