Research identifies bi-allelic GSPT1 variants linked to a syndromic neurodevelopmental disorder, which includes symptoms of intellectual disability and microcephaly. This discovery enhances understanding of genetic factors in rare neurodevelopmental conditions.
bi allelic gspt1 variants are associated with a syndromic neurodevelopmental disorder characterized by intellectual disability and microcephaly
Original title: “Bi-allelic GSPT1 variants are associated with a syndromic neurodevelopmental disorder characterized by intellectual disability and microcephaly.”