Diversity of Clinical and Molecular Characteristics in Korean Patients with 16p11.2 Microdeletion Syndrome

16p11.2 copy number variations (CNVs) are increasingly recognized as one of the most frequent genomic disorders, and the 16p11.2 microdeletion exhibits broad phenotypic variability and a diverse clinical phenotype. We describe the neurodevelopmental course and discordant clinical phenotypes observed...

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Veröffentlicht in:	International journal of molecular sciences 2023-12, Vol.25 (1), p.253
Hauptverfasser:	Han, Ji Yoon, Cho, Yong Gon, Jo, Dae Sun, Park, Joonhong
Format:	Artikel
Sprache:	eng
Schlagworte:	Academic achievement Autism Body mass index Chromosome Deletion Chromosomes, Human, Pair 16 - genetics Comparative analysis Convulsions & seizures Developmental Disabilities - genetics DNA Copy Number Variations East Asian People Epilepsy Genetic Diseases, Inborn Gestational age Humans Infant Infant, Newborn Intellectual Disability - genetics Levetiracetam Magnetic resonance imaging Obesity Overweight Patients Phenotype Republic of Korea Scoliosis
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