Novel Nonsense Mutation in ASXL3 causing Bainbridge-Ropers Syndrome

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dc.contributor.authorLingyan, Qiaoen_US
dc.contributor.authorYusheng, Liuen_US
dc.contributor.authorJuan, Geen_US
dc.contributor.authorTang, Lien_US
dc.date.accessioned2020-04-23T07:44:26Z
dc.date.available2020-04-23T07:44:26Z
dc.date.issued2019-09
dc.description.abstractBackground:Bainbridge-Ropers syndrome is a rare autosomal dominant genetic disorder.Case characteristics: A 26-day-old neonate presented with feeding difficulties, excessivesleeping, and hirsutism over forehead and lumbosacral skin. Outcome: Whole-exomesequencing identified a novel nonsensemutation. Message: We report a novel mutation ina Chinese neonate with Bainbridge-Ropers syndrome.en_US
dc.identifier.affiliationsMedical Department, Qingdao Universityen_US
dc.identifier.affiliationsDepartment of Pediatric Endocrinology and Genetic Metabolic Diseases,Qingdao Women and Children’s Hospitalen_US
dc.identifier.affiliationsDepartment of Pediatric Surgery, The Affiliated Hospital of Qingdao University;Qingdao, Chinaen_US
dc.identifier.citationLingyan Qiao, Yusheng Liu, Juan Ge, Tang Li. Novel Nonsense Mutation in ASXL3 causing Bainbridge-Ropers Syndrome. Indian Pediatrics. 2019 Sep; 56(9): 792-794en_US
dc.identifier.issn0974-7559
dc.identifier.issn0019-6061
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/199391
dc.languageenen_US
dc.publisherIndian Academy of Pediatricsen_US
dc.relation.issuenumber9en_US
dc.relation.volume56en_US
dc.source.urihttps://www.indianpediatrics.net/sep2019/792.pdfen_US
dc.subjectHypersomniaen_US
dc.subjectMutationen_US
dc.subjectWhole-exome sequencingen_US
dc.titleNovel Nonsense Mutation in ASXL3 causing Bainbridge-Ropers Syndromeen_US
dc.typeJournal Articleen_US
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