Case report
Sep 2026
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...
B. Koyutourk, Dize Deryali, Ayla Turgay et al.
· Ideggyógyászati Szemle · 0 citations