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A case of Conradi-Hünermann-Happle syndrome with typical clinical manifestations confirmed by genetic mutation analysis.

作者信息

Hong Jun Ki, Han Hye Sung, Seo Seong Jun, Kim Su Yeong, Park Kui Young

机构信息

Department of Dermatology, Chung-Ang University College of Medicine, Seoul, Korea.

Department of Pediatrics, Chung-Ang University College of Medicine, Seoul, Korea.

出版信息

Indian J Dermatol Venereol Leprol. 2021 Nov-Dec;87(6):892. doi: 10.25259/IJDVL_876_20.

DOI:10.25259/IJDVL_876_20
PMID:34491676
Abstract
摘要

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A Novel EBP c.452A>G Mutation Identified in a Girl with Conradi-Hünermann-Happle Syndrome Presenting with Hydronephrosis.在一名患有先天性点状软骨发育不良综合征并伴有肾积水的女孩中发现一种新型EBP基因c.452A>G突变。
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