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DeSanto‐Shinawi syndrome is a rare neurodevelopmental disorder caused by loss‐of‐function variants of WAC, located on chromosome 10p12.1. This syndrome is characterized by dysmorphic facial features, intellectual disability, and behavioral problems. Click to show full abstract
DeSanto‐Shinawi syndrome is a rare neurodevelopmental disorder caused by loss‐of‐function variants of WAC, located on chromosome 10p12.1. This syndrome is characterized by dysmorphic facial features, intellectual disability, and behavioral problems.
Keywords:
comparison patients;
desanto shinawi;
shinawi syndrome;
syndrome;
phenotypic comparison;
patients affected
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2022
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2022
Link to full text (if available)
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recommendations!