Missed diagnosis of lissencephaly after prenatal diagnosis: A case report
Sign Up to like & getrecommendations! Published in 2023 at "Medicine"
DOI: 10.1097/md.0000000000033014
Abstract: Rationale: Lissencephaly (LIS) is a rare and serious cortical malformation characterized by a smooth or nearly smooth brain surface. With the progress of molecular genetics, platelet-activating factor acetylhydrolase brain isoform Ib is the most frequent… read more here.
Keywords: diagnosis lissencephaly; diagnosis; missed diagnosis; report ... See more keywords
Child Neurology: RNA Sequencing for the Diagnosis of Lissencephaly
Sign Up to like & getrecommendations! Published in 2021 at "Neurology"
DOI: 10.1212/wnl.0000000000012265
Abstract: Malformations of cortical development represent an important cause of developmental disability and neurologic morbidity and mortality.1 Advances in genetic methodology, particularly the widespread implementation of next-generation DNA sequencing technology (e.g., multigene panels and whole exome… read more here.
Keywords: sequencing diagnosis; diagnosis lissencephaly; child neurology; rna sequencing ... See more keywords