Kindler综合征1家系临床及基因突变报道

doi:10.35541/cjd.20210111

Chinese Journal of Dermatology ›› 2024, Vol. 57 ›› Issue (4): 370-372.doi: 10.35541/cjd.20210111

• Case Reports • Previous Articles Next Articles

A case of Kindler syndrome: clinical and genetic analysis

Ling Ming^1,2, Kong Xiangping^1,3, Huang Furong¹, Xu Jun¹, Zhao Menghua¹, Huang Li¹, Zhang Aimin¹

¹Hunan Provincial People′s Hospital and the First Affiliated Hospital of Hunan Normal University, Human Provincial Key Laboratory of Pediatric Respirology, Changsha 410000, China; ²Department of Pediatric Intensive Care Medicine, Yueyang Central Hospital, Yueyang 414000, Hunan, China; ³Department of Neonatology, Maternal and Child Health Care Hospital of Qiannan Buyi and Miao Autonomous Prefecture, Xingyi 562409, Guizhou, China

Received:2021-02-01 Revised:2023-06-28 Online:2024-04-15 Published:2024-04-07
Contact: Zhang Aimin E-mail:lilly610@sina.com
Supported by:
Hunan Science and Technology Innovation Talent Plan Huxiang High-level Talent Gathering Engineering Innovation Team Project（2021RC5014）

Abstract

Ling Ming, Kong Xiangping, Huang Furong, Xu Jun, Zhao Menghua, Huang Li, Zhang Aimin. A case of Kindler syndrome: clinical and genetic analysis[J]. Chinese Journal of Dermatology, 2024, 57(4): 370-372.doi:10.35541/cjd.20210111

References ［10］

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［7］	林志淼, 谭燕红, 马志红, 等. 一例Kindler综合征患者皮损超微结构及FERMT1基因突变分析［J］. 中华皮肤科杂志, 2010,43（10）:677⁃679. doi: 10.3760/cma.j.issn.0412⁃4030.2010.10. 002.
［8］	Siegel DH, Ashton GH, Penagos HG, et al. Loss of kindlin⁃1, a human homolog of the Caenorhabditis elegans actin⁃extracellular⁃matrix linker protein UNC⁃112, causes Kindler syndrome［J］. Am J Hum Genet, 2003,73（1）:174⁃187. doi: 10.1086/376609.
［9］	Fuchs⁃Telem D, Nousbeck J, Singer A, et al. New intragenic and promoter region deletion mutations in FERMT1 underscore genetic homogeneity in Kindler syndrome［J］. Clin Exp Dermatol, 2014,39（3）:361⁃367. doi: 10.1111/ced.12222.
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A case of Kindler syndrome: clinical and genetic analysis

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