A Novel Mutation in ATRX Causes Alpha-Thalassemia X-Linked Intellectual Disability Syndrome in a Han Chinese Family
ObjectiveTo analyze genetic mutations in a Chinese pedigree affected with Alpha-thalassemia X-linked intellectual disability syndrome, providing a precise diagnosis and genetic counseling.MethodsClinical data was collected. A novel alternative splicing variant detected by whole-exome sequencing was...
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| Main Authors: | , , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2022-01-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |