GNB5 mutation causes a novel neuropsychiatric disorder featuring attention deficit hyperactivity disorder severely impaired language development and normal cognition

摘要

BackgroundNeuropsychiatric disorders are common forms of disability in humans. Despite recent progress in deciphering the genetics of these disorders, their phenotypic complexity continues to be a major challenge. Mendelian neuropsychiatric disorders are rare but their study has the potential to unravel novel mechanisms that are relevant to their complex counterparts.