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http://dx.doi.org/10.1016/j.leukres.2008.12.022 | DOI Listing |
J Dev Behav Pediatr
August 2024
Department of Psychiatry and Behavioral Sciences, Center for Interdisciplinary Brain Sciences Research, Stanford University, Stanford, CA.
Objective: Klinefelter syndrome (KS) is the most common sex-chromosome aneuploidy (47,XXY), affecting 1 in 500 male participants. The phenotype of male participants with KS includes both physical features, such as tall stature and testicular insufficiency, and behavioral alterations, including difficulties in social functioning, anxiety, and depression. Studies examining underlying neural alterations associated with the behavioral phenotype, however, are sparse.
View Article and Find Full Text PDFJ Dev Behav Pediatr
June 2024
Department of Pediatrics, Division of Developmental and Behavioral Health, Children's Mercy Kansas City, UMKC School of Medicine, Kansas City, MO.
Nick is a 5-year-old boy who began displaying self-stimulating behaviors and decreased social interactions shortly before turning 3 years. At the age of 3.5 years, he was diagnosed with autism spectrum disorder by a local developmental-behavioral pediatrician.
View Article and Find Full Text PDFOrphanet J Rare Dis
March 2024
Harvey Institute for Human Genetics, Department of Pediatrics, Greater Baltimore Medical Center, Baltimore, MD, USA.
Background: Cornelia de Lange (CdLS) is a rare genetic disorder that affects most body systems. Variants in multiple genes including NIPBL and SMC1A, can cause the syndrome. To date, literature on genotype-phenotype associations in individuals with CdLS is extremely limited, although studies suggest some differences in clinical phenotype severity across variants.
View Article and Find Full Text PDFMol Genet Genomic Med
February 2024
Liu, Y., Jin, X., Guo, Y.
View Article and Find Full Text PDFMol Genet Genomic Med
February 2024
Song, Z., Wang, Q., Zhang, H.
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