| ［1］ |
Jobard F, Bouadjar B, Caux F, et al. Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome［J］. Hum Mol Genet, 2003,12（8）:925⁃935. doi: 10.1093/hmg/ddg097.
|
| ［2］ |
Mariath LM, Santin JT, Schuler⁃Faccini L, et al. Inherited epidermolysis bullosa: update on the clinical and genetic aspects［J］. An Bras Dermatol, 2020,95（5）:551⁃569. doi: 10.1016/j.abd. 2020.05.001.
|
| ［3］ |
Youssefian L, Vahidnezhad H, Uitto J. Kindler Syndrome ［M/OL］. （2016⁃03⁃03）［2022⁃01⁃06］//Adam MP, Mirzaa GM, Pagon RA, et al. GeneReviews® ［Internet］. Seattle （WA）: University of Washington, 1993 -2023. https://www.ncbi.nlm.nih.gov/books/NBK 349072.
|
| ［4］ |
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology［J］. Genet Med, 2015,17（5）:405⁃424. doi: 10.1038/gim.2015.30.
|
| ［5］ |
Oh SJ, Kim SE, Lee SE, et al. Homozygous Deletion Mutation of the FERMT1 Gene in a Chinese Patient with Kindler Syndrome［J］. Ann Dermatol, 2016,28（4）:503⁃505. doi: 10.5021/ad.2016.28.4.503.
|
| ［6］ |
Zheng BW, Zhu XZ, Lan Y, et al. Unique variants in the FLG gene and FERMT1 gene in a Chinese patient with ichthyosis and Kindler syndrome［J］. JAAD Case Rep, 2019,5（12）:1061⁃1064. doi: 10.1016/j.jdcr.2019.09.023.
|
| ［7］ |
Meng L, Yang X, Wu Y, et al. A novel frameshift mutation in the FERMT1 gene in a Chinese patient with Kindler syndrome［J］. Exp Ther Med, 2020,20（5）:103. doi: 10.3892/etm.2020.9233.
|
| ［8］ |
Gao Y, Bai JL, Liu XY, et al. A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome［J］. J Zhejiang Univ Sci B, 2015,16（11）:957⁃962. doi: 10.1631/jzus.B1500080.
|
| ［9］ |
Zhou C, Song S, Zhang J. A novel 3017⁃bp deletion mutation in the FERMT1 （KIND1） gene in a Chinese family with Kindler syndrome［J］. Br J Dermatol, 2009,160 （5）:1119⁃1122. doi: 10.1111/j.1365⁃2133.2009.09052.x.
|
