A novel UBE2A splice site mutation with intellectual disability type Nascimento
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Abstract
Recently, only two splice-site mutations of the UBE2A gene have been observed in patients with X-linked ID type Nascimento (XLID). We found a novel splice site mutation in UBE2A (c.241+1 G>A) and novel clinical appearances, including a typical four-finger line and erected head unstable.
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- europepmc
- last seen: 2026-05-19T01:45:01.086888+00:00