Article
Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA.
American journal of medical genetics. Part A - 1 Jan 2020
Davis Shanlee, Ware Meredith A, Zeiger Jordan, Deardorff Matthew A, Grand Katheryn, Grimberg Adda, Hsu Stephanie, Kelsey Megan, Majidi Shideh, Matthew Revi P, Napier Melanie, Nokoff Natalie, Prasad Chitra, Riggs Andrew C, McKinnon Margaret L, Mirzaa Ghayda
Abstract excerpt
Megalencephaly-capillary malformation syndrome (MCAP) is a brain overgrowth disorder characterized by cortical malformations (specifically polymicrogyria), vascular anomalies, and segmental overgrowth secondary to somatic activating mutations in the PI3K-AKT-MTOR pathway (PIK3CA). Cases of growth failure and hypoglycemia have been reported in patients with MCAP, raising the suspicion for unappreciated growth...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.