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MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.
Morning glory optic nerve in Aicardi syndrome: Report of a case with fluorescein angiography.
📖 RevisãoPAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration.
Ambiguous Genitalia Associated with an Extremely Rare Syndrome: A Case Report of XLAG Syndrome and Review of the Literature.
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.