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  • Title: Novel Nonsense Mutation in ASXL3 causing Bainbridge-Ropers Syndrome.
    Author: Qiao L, Liu Y, Ge J, Li T.
    Journal: Indian Pediatr; 2019 Sep 15; 56(9):792-794. PubMed ID: 31638014.
    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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