AIM: To determine the diagnostic yield of comprehensive genetic testing in patients with neuroimaging findings suggestive of lissencephaly spectrum disorders and to characterize novel pathogenic variants contributing to the genetic architecture of the spectrum. METHODS: We reviewed clinical and genetic findings of 23 patients with neuroimaging features suspected of the lissencephaly spectrum who underwent genetic testing at the Children's Hospital Zagreb between 2016 and 2025. Clinical data were
Genetic causes of the lissencephaly spectrum: insights from chromosomal microarray and clinical/whole-exome sequencing.
Ana-Maria Meašić·Ingeborg Barišić·Adriana Bobinec·Leona Morožin Pohovski·Ivona Sansović·Morana Mikloš·Mijana Kero·Ana Tripalo Batoš·Ljubica Odak·Katarina Vulin
