Ontology highlight
ABSTRACT:
SUBMITTER: Oba D
PROVIDER: S-EPMC5828294 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
Oba Daiju D Inoue Shin-Ichi SI Miyagawa-Tomita Sachiko S Nakashima Yasumi Y Niihori Tetsuya T Yamaguchi Seiji S Matsubara Yoichi Y Aoki Yoko Y
EBioMedicine 20171206
Costello syndrome is a "RASopathy" that is characterized by growth retardation, dysmorphic facial appearance, hypertrophic cardiomyopathy and tumor predisposition. >80% of patients with Costello syndrome harbor a heterozygous germline G12S mutation in HRAS. Altered metabolic regulation has been suspected because patients with Costello syndrome exhibit hypoketotic hypoglycemia and increased resting energy expenditure, and their growth is severely retarded. To examine the mechanisms of energy repr ...[more]