Article

A novel UBE2A splice site mutation with intellectual disability type Nascimento

2021-09-07

Abstract excerpt

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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Literature Corpus work: 6753d390-9ecd-5c39-a9f7-ce653926b7a7
DOI: 10.22541/au.163098656.68415620/v1

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