A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family.

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作者： Masatsune,Itoh ^[1] ; Yuko,Kittaka ^[2] ; Yo,Niida ^[3] ; Yutaka,Saikawa ^[2]

作者单位： Department of Pediatrics, Kanazawa Medical University, Ishikawa, Japan; Division of Clinical Genetics, Multidisciplinary Medical Center, Kanazawa Medical University Hospital, Ishikawa, Japan. ^[1] Department of Pediatrics, Kanazawa Medical University, Ishikawa, Japan. ^[2] Division of Clinical Genetics, Multidisciplinary Medical Center, Kanazawa Medical University Hospital, Ishikawa, Japan. ^[3]

关键词 TRPS type 1 (TPRS1)Tricho-rhino-phalangeal syndrome (TRPS)novel frameshift mutation

DOI 10.1297/cpe.25.115

PMID 27507914

发布时间 2020-10-01

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Clinical pediatric endocrinology

2016年25卷3期

115-8页

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A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family.

Clinical pediatric endocrinology

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Clinical pediatric endocrinology

相关期刊

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A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family.

Clinical pediatric endocrinology

相似文献

Clinical pediatric endocrinology

相关期刊

检索历史清除