Growth Hormone Deficiency in MCAP: An Association with Activating Mutations in PIK3CA

Megalencephaly-capillary malformation syndrome (MCAP) is an overgrowth disorder characterized by cerebrocortical malformations, vascular anomalies, and segmental overgrowth secondary to somatic activating mutations in the PI3K-AKT-MTOR pathway (PIK3CA). Cases of growth failure and hypoglycemia have...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Am J Med Genet A
Egile Nagusiak: Davis, Shanlee, Ware, Meredith A., Zeiger, Jordan, Deardorff, Matthew A., Grand, Katheryn, Grimberg, Adda, Hsu, Stephanie, Kelsey, Megan, Majidi, Shideh, Mathew, Revi P., Napier, Melanie, Nokoff, Natalie, Prasad, Chitra, Riggs, Andrew C., McKinnon, Margaret L., Mirzaa, Ghayda
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2019
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7262792/
https://ncbi.nlm.nih.gov/pubmed/31729162
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61403
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