Growth hormone deficiency in megalencephaly‐capillary malformation syndrome: An association with activating mutations in PIK3CA

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 fa...

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Veröffentlicht in:	American journal of medical genetics. Part A 2020-01, Vol.182 (1), p.162-168
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	1-Phosphatidylinositol 3-kinase AKT protein Brain - metabolism Brain - pathology Capillaries - abnormalities Capillaries - pathology Child Child, Preschool Children Class I Phosphatidylinositol 3-Kinases - genetics Cortex Endocrine disorders Female Genetic Predisposition to Disease Growth disorders Growth factors Growth Hormone - deficiency Growth Hormone - genetics Growth hormones Growth patterns Humans Hypoglycemia Hypoglycemia - complications Hypoglycemia - genetics Hypoglycemia - pathology Infant Infant, Newborn Insulin Male Megalencephaly megalencephaly‐capillary malformation syndrome Mutation Mutation - genetics Physical growth PIK3CA Polymicrogyria Polymicrogyria - genetics Polymicrogyria - pathology TOR protein Vascular Malformations - complications Vascular Malformations - genetics Vascular Malformations - pathology
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