Novel Nonsense Mutation in ASXL3 causing Bainbridge-Ropers Syndrome
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Bainbridge-Ropers syndrome is a rare autosomal dominant genetic disorder.
A 26-day-old neonate presented with feeding difficulties, excessive sleeping, and hirsutism over forehead and lumbosacral skin.
Whole-exome sequencing identified a novel nonsense mutation.
We report a novel mutation in a Chinese neonate with Bainbridge-Ropers syndrome.
KeywordsHypersomnia Mutation Whole-exome sequencing
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