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首页> BMC medical genetics> Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report.

Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report.

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作者： Shanshan,Xu ^[1] ; Qun,Lian ^[2] ; Jinzhun,Wu ^[3] ; Lingli,Li ^[4] ; Jia,Song ^[5]

作者单位： Department of Pediatrics, The First Affiliated Hospital of Xiamen University, No.55 Zhenhai Road, Xiamen, 316003, Fujian Province, China. ^[1] Pediatric Key Laboratory of Xiamen, No.55 Zhenhai Road, Xiamen, 361003, China. ^[2] Institute of Pediatrics, School of Medicine, Xiamen University, No.55 Zhenhai Road, Xiamen, 361003, China. ^[3] Department of Pediatrics, The First Affiliated Hospital of Xiamen University, No.55 Zhenhai Road, Xiamen, 316003, Fujian Province, China. lianqunxm@126.com. ^[4] Pediatric Key Laboratory of Xiamen, No.55 Zhenhai Road, Xiamen, 361003, China. lianqunxm@126.com. ^[5] Institute of Pediatrics, School of Medicine, Xiamen University, No.55 Zhenhai Road, Xiamen, 361003, China. lianqunxm@126.com. ^[6]

关键词 CSNK2A1 Case report Dual molecular diagnosis Okur-Chung neurodevelopmental syndrome TRPS1 Tricho-rhino-phalangeal syndrome type I

主题词碱基序列(Base Sequence);儿童(Child);女(雌)性(Female);指(Fingers);毛发疾病(Hair Diseases);人类(Humans);Langer-Giedion综合征(Langer-Giedion Syndrome);男(雄)性(Male);鼻(Nose);系谱(Pedigree)

DOI 10.1186/s12881-020-01096-w

PMID 32746809

发布时间 2022-12-07

翻译满意度评价：

准确一般字义偏差语意偏离译文作用小提交

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BMC medical genetics

BMC medical genetics

2020年21卷1期

158页

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