Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery
Abstract Background Intellectual disability (ID) is a clinically important disease and a most prevalent neurodevelopmental disorder. The etiology and pathogenesis of ID are poorly recognized. Exome sequencing revealed a homozygous missense mutation in the POLR3B gene in a consanguineous family with...
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| Main Authors: | , , , , |
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| Format: | Book |
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BMC,
2022-04-01T00:00:00Z.
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Internet
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |