Phenotype and genotype in a Taiwanese girl with Sotos Syndrome.
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ABSTRACT:
SUBMITTER: Lin WD
PROVIDER: S-EPMC9629404 | biostudies-literature | 2022
REPOSITORIES: biostudies-literature
Publications
Phenotype and genotype in a Taiwanese girl with Sotos Syndrome.
Lin Wei-De WD Wang Chung-Hsing CH Tsai Fuu-Jen FJ Chou I-Ching IC
BioMedicine 20220901 3
Rare copy number variations have been linked to an important source of mutation in many psychopathological traits and neurodevelopmental disorders. In this study, we describe a Taiwanese girl with mental retardation and mild macrocephaly who underwent a childhood psychological evaluation for several years first. When she was 5 years old, she came to our hospital for further diagnosis. We conducted molecular cytogenetic tests and confirmed she actually has Sotos syndrome. We compared our case wit ...[more]
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