Three Siblings with Cohen Syndrome and a Novel Vacuolar Protein Sorting 13 Homolog B Mutation
Background: Cohen syndrome (CS) is caused by an autosomal recessive (AR) mutation of the vacuolar protein sorting 13 homolog B (VPS13B) gene on chromosome 8q22.2. It is characterized by hypotonia, obesity, prominent incisors, and mental retardation. It is diagnosed by the satisfaction of various sys...
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| Main Authors: | , , , , |
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| Format: | Book |
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Wolters Kluwer Medknow Publications,
2022-01-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |