[1] |
王占想, 陈楠, 宋亚丽, 等. 一残毁性掌跖角化病家系GJB2基因突变研究[J]. 中华皮肤科杂志, 2012,45(5):344⁃346. doi:10.3760/cma.j.issn.0412⁃4030.2012.05.015.
|
[2] |
刘玉梅, 高歆婧, 田歆, 等. 残毁型掌跖角化病GJB2和LOR基因突变研究[J]. 中华医学遗传学杂志, 2013,30(2):203⁃206. doi: 10.3760/cma.j.issn.1003⁃9406.2013.02.018.
|
[3] |
Fukunaga I, Oe Y, Danzaki K, et al. Modeling gap junction beta 2 gene⁃related deafness with human iPSC[J]. Hum Mol Genet, 2021,30(15):1429⁃1442. doi: 10.1093/hmg/ddab097.
|
[4] |
Srinivas M, Verselis VK, White TW. Human diseases associated with connexin mutations[J]. Biochim Biophys Acta Biomembr, 2018,1860(1):192⁃201. doi: 10.1016/j.bbamem.2017.04.024.
|
[5] |
Birkenhager R, Lublinghoff N, Prera E, et al. Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene[J]. Am J Med Genet A, 2010,152A(7):1798⁃1802. doi: 10.1002/ajmg.a.33464.
|
[6] |
李智铭, 刘晶晶, 张学奇, 等. 伴皮肤鳞状细胞癌的角膜炎-鱼鳞病-耳聋综合征一例GJB2基因突变研究并文献复习[J]. 中华皮肤科杂志, 2015,48(12):864⁃866. doi:10.3760/cma.j.issn.0412⁃4030.2015.12.009.
|
[7] |
Levinsohn JL, McNiff JM, Antaya RJ, et al. A somatic p.G45E GJB2 mutation causing porokeratotic eccrine ostial and dermal duct nevus[J]. JAMA Dermatol, 2015,151(6):638⁃641. doi: 10.1001/jamadermatol.2014.5069.
|
[8] |
Akiyama M, Sakai K, Arita K, et al. A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads[J]. J Invest Dermatol, 2007,127(6):1540⁃1543. doi: 10.1038/sj.jid.5700711.
|
[9] |
Ikeda K, Takeichi T, Ito Y, et al. Classical Vohwinkel syndrome with heterozygous p.Asp66His mutation in GJB2 gene: second Asian case[J]. J Dermatol, 2020,47(10):e352⁃e354. doi: 10. 1111/1346⁃8138.15513.
|
[10] |
Xie MX, Yang WP, Luo HJ, et al. G59S mutation in the GJB2 gene in a Chinese family with classic Vohwinkel syndrome[J]. J Dermatol, 2019,46(2):154⁃157. doi: 10.1111/1346⁃8138.14727.
|
[11] |
Qiu Y, Wang Z, Chen N, et al. D66H mutation in GJB2 gene in a Chinese family with classical Vohwinkel syndrome[J]. Indian J Dermatol Venereol Leprol, 2012,78(5):640⁃642. doi: 10.4103/0378⁃6323.100595.
|
[12] |
Duchatelet S, Boyden LM, Ishida⁃Yamamoto A, et al. Mutations in PERP cause dominant and recessive keratoderma[J]. J Invest Dermatol, 2019,139(2):380⁃390. doi: 10.1016/j.jid.2018.08.026.
|
[13] |
Rashid RM, Cowan E, Abbasi SA, et al. Destructive deformation of the digits with auto⁃amputation: a review of pseudo⁃ainhum [J]. J Eur Acad Dermatol Venereol, 2007,21(6):732⁃737. doi: 10.1111/j.1468⁃3083.2007.02224.x.
|