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Description

Children with Fragile X Syndrome may experience a range of symptoms, including: Delayed development of skills such as sitting, crawling, and walking Difficulty with language and speech Behavioral issues, such as hand-flapping, poor eye contact, and temper tantrums Anxiety, depression, and obsessive-compulsive behaviors Sensitivity to light and sound Hyperactivity and attention difficulties Seizures and sleep problems In addition to these symptoms, children with Fragile X Syndrome may also have certain physical characteristics, such as a large head, long face, and loose joints

ECOLE: learning to call copy number variants on whole exome sequencing data

Zhang XQ

J.Kim KyunghyunK

Postulated mechanisms of metformin action, including AMPK activation and complex I inhibition, have been demonstrated in the setting of a consistent pleiotropic activity of this drug, suggesting that several molecular targets could be involved (LaMoia and Shulman, 2021)