Syndrome-Specific Neuroanatomical Phenotypes in Girls With Turner and Noonan Syndromes.

ABSTRACT:

Background

Turner syndrome (TS) and Noonan syndrome (NS) are distinct genetic conditions with highly similar physical and neurodevelopmental phenotypes. TS is caused by X chromosome absence, whereas NS results from genetic mutations activating the Ras-mitogen-activated protein kinase signaling pathway. Previous neuroimaging studies in individuals with TS and NS have shown neuroanatomical variations relative to typically developing individuals, a standard comparison group when initially examining a clinical group of interest. However, none of these studies included a second clinical comparison group, limiting their ability to identify syndrome-specific neuroanatomical phenotypes.

Methods

In this study, we compared the behavioral and brain phenotypes of 37 girls with TS, 26 gi

SUBMITTER: Siqueiros-Sanchez M 

PROVIDER: S-EPMC10305746 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature