REFERENCES
1. KINDLER T. Congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy. Br J Dermatol 1954;66:104-11.
2. Youssefian L, Vahidnezhad H, Uitto J. Kindler Syndrome. GeneReviews® [Internet]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK349072/ [Last accessed on 1 Mar 2023].
3. Handa N, Kachhawa D, Jain VK, Rao P, Das A. Kindler’s syndrome: a tale of two siblings. Indian J Dermatol 2016;61:468.
4. Guerrero-Aspizua S, Conti CJ, Escamez MJ, et al. Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients. Orphanet J Rare Dis 2019;14:183.
6. Ashton GH, McLean WH, South AP, et al. Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome. J Invest Dermatol 2004;122:78-83.
7. Herz C, Aumailley M, Schulte C, Schlötzer-Schrehardt U, Bruckner-Tuderman L, Has C. Kindlin-1 is a phosphoprotein involved in regulation of polarity, proliferation, and motility of epidermal keratinocytes. J Biol Chem 2006;281:36082-90.
8. Ussar S, Moser M, Widmaier M, et al. Loss of Kindlin-1 causes skin atrophy and lethal neonatal intestinal epithelial dysfunction. PLoS Genet 2008;4:e1000289.
9. Youssefian L, Vahidnezhad H, Barzegar M, et al. The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families. J Invest Dermatol 2015;135:1447-50.
10. Richards S, Aziz N, Bale S, et al. ACMG Laboratory Quality Assurance Committee. 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. Genet Med 2015;17:405-24.
11. Chu ATW, Fung JLF, Tong AHY, et al. Hong Kong Genome Project. Potentials and challenges of launching the pilot phase of Hong Kong Genome Project. J Transl Genet Genom 2022;6:290-303.
12. Mariath LM, Santin JT, Schuler-Faccini L, Kiszewski AE. Inherited epidermolysis bullosa: update on the clinical and genetic aspects. An Bras Dermatol 2020;95:551-69.
13. Burch JM, Fassihi H, Jones CA, Mengshol SC, Fitzpatrick JE, McGrath JA. Kindler syndrome: a new mutation and new diagnostic possibilities. Arch Dermatol 2006;142:620-4.
14. Has C, Castiglia D, del Rio M, et al. Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. Hum Mutat 2011;32:1204-12.
15. Kantheti P, Kubba A, Prabhu A, Batrani M, Hiremagalore R. Two novel mutations in KIND1 in Indian patients with Kindler syndrome. Clin Exp Dermatol 2017;42:95-7.
16. Penagos H, Jaen M, Sancho MT, et al. Kindler syndrome in native Americans from Panama: report of 26 cases. Arch Dermatol 2004;140:939-44.
17. 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. Am J Hum Genet 2003;73:174-87.
18. Ou M, Leung HC, Leung AW, et al. HKG: an open genetic variant database of 205 Hong Kong cantonese exomes. NAR Genom Bioinform 2022;4:lqac005.
19. Natsuga K, Nishie W, Shinkuma S, et al. Expression of exon-8-skipped kindlin-1 does not compensate for defects of Kindler syndrome. J Dermatol Sci 2011;61:38-44.
20. Wada M, Masuda K, Tsuruta D, et al. Case of Kindler syndrome resulting from mutation in the FERMT1 gene. J Dermatol 2012;39:1057-8.
21. Lin Z, Tan Y, Ma Z, et al. Ultrastructure of skin lesions and mutations in the FERMT1 gene in a patient with Kindler syndrome. Available from: http://www.pifukezazhi.com/CN/Y2010/V43/I10/677 [Last accessed on 23 Feb 2023].
22. Song D, Li Z, Liu J, Wang S. Kindler epidermolysis bullosa with pseudoainhum:a case report. Chin J Dermatovene 2022:36.
23. Li M, Li W, Zhu D, et al. Novel pathogenic mutations of FERMT1 in two Chinese Kindler syndrome families.
24. Meng L, Yang X, Wu Y, et al. A novel frameshift mutation in the FERMT1 gene in a Chinese patient with Kindler syndrome. Exp Ther Med 2020;20:103.
25. Oh SJ, Kim S-E, Lee SE, Kim S-C. Homozygous deletion mutation of the FERMT1 gene in a Chinese patient with Kindler syndrome. Ann Dermatol 2016;28:503-5.
26. Ohashi A, Kiniwa Y, Okuyama R, et al. A case of Kindler syndrome with severe esophageal stenosis. Int J Dermatol 2015;54:e106-8.
27. Gao Y, Bai JL, Liu XY, et al. A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome. J Zhejiang Univ Sci B 2015;16:957-62.
28. Zhou C, Song S, Zhang J. A novel 3017-bp deletion mutation in the FERMT1(KIND1) gene in a Chinese family with Kindler syndrome. Br J Dermatol 2009;160:1119-22.
29. Zheng BW, Zhu XZ, Lan Y, Ma JC, Li XQ. Unique variants in the FLG gene and FERMT1 gene in a Chinese patient with ichthyosis and Kindler syndrome. JAAD Case Rep 2019;5:1061-4.
30. Martignago BC, Lai-Cheong JE, Liu L, McGrath JA, Cestari TF. Recurrent KIND1 (C20orf42) gene mutation, c.676insC, in a Brazilian pedigree with Kindler syndrome. Br J Dermatol 2007;157:1281-4.
31. Techanukul T, Sethuraman G, Zlotogorski A, et al. Novel and recurrent FERMT1 gene mutations in Kindler syndrome. Acta Derm Venereol 2011;91:267-70.
32. Has C, Herz C, Zimina E, et al. Kindlin-1 is required for RhoGTPase-mediated lamellipodia formation in keratinocytes. Am J Pathol 2009;175:1442-52.
33. Kern JS, Herz C, Haan E, et al. Chronic colitis due to an epithelial barrier defect: the role of kindlin-1 isoforms. J Pathol 2007;213:462-70.
34. Has C, Wessagowit V, Pascucci M, et al. Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene. J Invest Dermatol 2006;126:1776-83.
