Abstract
Background
Bainbridge-Ropers syndrome is a rare autosomal dominant genetic disorder.
Case characteristics
A 26-day-old neonate presented with feeding difficulties, excessive sleeping, and hirsutism over forehead and lumbosacral skin.
Outcome
Whole-exome sequencing identified a novel nonsense mutation.
Message
We report a novel mutation in a Chinese neonate with Bainbridge-Ropers syndrome.
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References
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Authors and Affiliations
Contributions
Contributors: LQ: Case management and drafted the manuscript; YL and JG: Literature review and helped to draft the manuscript; TL: organized the clinical follow-up study and reviewed the manuscript.
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Additional information
Competing Interest: None stated.
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Qiao, L., Liu, Y., Ge, J. et al. Novel Nonsense Mutation in ASXL3 causing Bainbridge-Ropers Syndrome. Indian Pediatr 56, 792–794 (2019). https://doi.org/10.1007/s13312-019-1627-y
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DOI: https://doi.org/10.1007/s13312-019-1627-y