Dize Deryali

FOXG1 syndrome: genetic background revealed by trio WES in case of a critically ill neonate.

FOXG1 syndrome, also referred to as congenital Rett syndrome, is an autosomal dominant neurodevelopmental disorder characterised by early-onset developmental delay, microcephaly, movement abnormalities, and epilepsy. We report a case of a male infant who presented with hypotonia and abnormal respiratory effort at birth...