Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities
We identified two homozygous truncating variants in GON4L [NM_001282860.2:c.62_63del, p.(Gln21Argfs*12) and c.5517+1G>A] in two unrelated…
Category: Neurological disorders
Rett syndrome
Rett syndrome (RTT) is a severe, progressive, neurodevelopmental disorder, which affects predominantly females. In most cases, RTT is associated wi…