TY - JOUR AU - Chen, N. AU - Xu, C. AU - Han, B. PY - 2010 DA - 2010// TI - G11R mutation in GJB6 gene causes hidrotic ectodermal dysplasia involving only hair and nails in a Chinese family JO - J Dermatol VL - 37 UR - https://doi.org/10.1111/j.1346-8138.2009.00768.x DO - 10.1111/j.1346-8138.2009.00768.x ID - Chen2010 ER - TY - JOUR AU - Reyes-Reali, J. AU - Mendoza-Ramos, M. I. AU - Garrido-Guerrero, E. AU - Mendez-Catala, C. F. AU - Mendez-Cruz, A. R. AU - Pozo-Molina, G. PY - 2018 DA - 2018// TI - Hypohidrotic ectodermal dysplasia: clinical and molecular review JO - Int J Dermatol VL - 57 UR - https://doi.org/10.1111/ijd.14048 DO - 10.1111/ijd.14048 ID - Reyes-Reali2018 ER - TY - JOUR AU - Zhang, X. J. AU - Chen, J. J. AU - Yang, S. PY - 2003 DA - 2003// TI - A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia JO - J Dermatol Sci VL - 32 UR - https://doi.org/10.1016/S0923-1811(03)00033-1 DO - 10.1016/S0923-1811(03)00033-1 ID - Zhang2003 ER - TY - JOUR AU - Kibar, Z. AU - Dube, M. P. AU - Powell, J. PY - 2000 DA - 2000// TI - Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping JO - Eur J Hum Genet VL - 8 UR - https://doi.org/10.1038/sj.ejhg.5200471 DO - 10.1038/sj.ejhg.5200471 ID - Kibar2000 ER - TY - JOUR AU - Shi, X. AU - Li, D. AU - Chen, M. PY - 2019 DA - 2019// TI - GJB6 mutation A88V for hidrotic ectodermal dysplasia in a Chinese family JO - Int J Dermatol VL - 58 UR - https://doi.org/10.1111/ijd.14341 DO - 10.1111/ijd.14341 ID - Shi2019 ER - TY - JOUR AU - Baris, H. N. AU - Zlotogorski, A. AU - Peretz-Amit, G. PY - 2008 DA - 2008// TI - A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome) broadens its genotypic basis JO - Br J Dermatol VL - 159 UR - https://doi.org/10.1111/j.1365-2133.2008.08796.x DO - 10.1111/j.1365-2133.2008.08796.x ID - Baris2008 ER - TY - JOUR AU - Essenfelder, G. M. AU - Bruzzone, R. AU - Lamartine, J. PY - 2004 DA - 2004// TI - Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity JO - Hum Mol Genet VL - 13 UR - https://doi.org/10.1093/hmg/ddh191 DO - 10.1093/hmg/ddh191 ID - Essenfelder2004 ER - TY - JOUR AU - Lamartine, J. AU - Munhoz Essenfelder, G. AU - Kibar, Z. PY - 2000 DA - 2000// TI - Mutations in GJB6 cause hidrotic ectodermal dysplasia JO - Nat Genet VL - 26 UR - https://doi.org/10.1038/79851 DO - 10.1038/79851 ID - Lamartine2000 ER - TY - JOUR AU - Smith, F. J. AU - Morley, S. M. AU - McLean, W. H. PY - 2002 DA - 2002// TI - A novel connexin 30 mutation in Clouston syndrome JO - J Invest Dermatol VL - 118 UR - https://doi.org/10.1046/j.0022-202x.2001.01689.x DO - 10.1046/j.0022-202x.2001.01689.x ID - Smith2002 ER - TY - JOUR AU - Graham, S. V. AU - Jiang, J. X. AU - Mesnil, M. PY - 2018 DA - 2018// TI - Connexins and Pannexins: Important Players in Tumorigenesis, Metastasis and Potential Therapeutics JO - Int J Mol Sci VL - 19 UR - https://doi.org/10.3390/ijms19061645 DO - 10.3390/ijms19061645 ID - Graham2018 ER - TY - JOUR AU - Bosen, F. AU - Schutz, M. AU - Beinhauer, A. AU - Strenzke, N. AU - Franz, T. AU - Willecke, K. PY - 2014 DA - 2014// TI - The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice JO - FEBS Lett VL - 588 UR - https://doi.org/10.1016/j.febslet.2014.03.040 DO - 10.1016/j.febslet.2014.03.040 ID - Bosen2014 ER - TY - JOUR AU - Li, W. AU - Gao, B. D. AU - Li, L. Y. AU - Xiao, H. M. AU - Lu, G. X. PY - 2006 DA - 2006// TI - Mutation screening and prenatal diagnosis of hidrotic ectodermal dysplasia in a Chinese family JO - Zhonghua Yi Xue Yi Chuan Xue Za Zhi VL - 23 ID - Li2006 ER - TY - JOUR AU - Yang, R. AU - Hu, Z. AU - Kong, Q. PY - 2016 DA - 2016// TI - A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia JO - J Eur Acad Dermatol Venereol VL - 30 UR - https://doi.org/10.1111/jdv.13600 DO - 10.1111/jdv.13600 ID - Yang2016 ER - TY - JOUR AU - Sukakul, T. AU - Yang, H. S. AU - Onoufriadis, A. AU - Hsu, C. K. AU - McGrath, J. A. PY - 2019 DA - 2019// TI - Pterygium and thinning of nails as an unusual manifestation in Clouston syndrome JO - J Dermatol VL - 46 UR - https://doi.org/10.1111/1346-8138.14867 DO - 10.1111/1346-8138.14867 ID - Sukakul2019 ER - TY - JOUR AU - Liu, Y. T. AU - Guo, K. AU - Li, J. AU - Liu, Y. AU - Zeng, W. H. AU - Geng, S. M. PY - 2015 DA - 2015// TI - Novel mutations in GJB6 and GJB2 in Clouston syndrome JO - Clin Exp Dermatol VL - 40 UR - https://doi.org/10.1111/ced.12654 DO - 10.1111/ced.12654 ID - Liu2015 ER -