Publications by authors named "Dorin Trigubov"
Prenat Diagn
November 2024
Article Synopsis
- * Trio exome sequencing revealed a likely pathogenic variant in the KIDINS220 gene, which is associated with various neurological and developmental disorders.
- * The case highlights a more severe clinical presentation of the KIDINS220 variant, contrasting with previous limited reports primarily focused on cases with ventriculomegaly.
View Article and Find Full Text PDF