Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.

ABSTRACT: Background: Craniosynostosis (CS) represents a highly heterogeneous genetic condition whose genetic background has not been yet revealed. The abnormality occurs either in isolated form or syndromic, as an element of hundreds of different inborn syndromes. Consequently, CS may often represent a challenging diagnostic issue. Methods: We investigated a three-tiered approach (karyotyping, Sanger sequencing, followed by custom gene panel/chromosomal microarray analysis, and exome sequencing), coupled with prioritization of variants based on dysmorphological assessment and description in terms of human phenotype ontology. In addition, we have also performed a statistical analysis of the obtained clinical data using the nonparametric test χ². Results: We achieved a

SUBMITTER: Bukowska-Olech E 

PROVIDER: S-EPMC9112228 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature