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1. ���ϴ�ѧҽѧԺ���ĸ���ҽԺ ���� 510220;
2. �й�ҽѧ��ѧԺ���й�Э��ҽ�ƴ�ѧƤ�����о���
1. ���ϴ�ѧҽѧԺ���ĸ���ҽԺ ���� 510220;
2. �й�ҽѧ��ѧԺ���й�Э��ҽ�ƴ�ѧƤ�����о���
[2] Tsunemi Y, Hattori N, Saeki H, et al. A keratin 9 Gene mutation (Asn160Ser) in a Japanese patient with epidermolytic palmoplantar keratoderma. J Dermatol, 2002, 29:768-772.
[3] Kimonis V, DiGiovanna JJ, Yang JM, et al. A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma. J Invest Dermatol, 1994, 103:764-769.
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[5] Wilgoss A, Leigh IM, Barnes MR, et al. Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. J Invest Dermatol, 1999, 113:1119-1122.
[6] McGrath JA, Hoeger PH, Christiano AM, et al. Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1. Br J Dermatol, 1999, 140:297-307.
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[10] Eckl KM, Stevens HP, Lestringant GG,et al. Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates. Hum Genet, 2003, 112:50-56.
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[12] Maestrini E, Korge BP, Ocana-Sierra J, et al. A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Hum Mol Genet, 1999, 8:1237-1243.
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[15] Maestrini E, Monaco AP, McGrath JA, et al. A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. Nat Genet, 1996, 13:70-77.
[16] Takahashi H, Ishida-Yamamoto A, Kishi A, et al. Loricrin gene mutation in a Japanese patient of Vohwinkel's syndrome. J Dermatol Sci, 1999, 19:44-47.
[17] Kibar Z, Der Kaloustian VM, Brais B, et al. The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q. Hum Mol Genet, 1996, 5:543-547.
[18] Coonar AS, Protonotarios N, Tsatsopoulou A, et al. Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21. Circulation, 1998, 97:2049-2058.
[19] Maillefer RH, Greydanus MP. To B or not to B: is tylosis B truly benign? Two North American genealogies. Am J Gastroenterol, 1999, 94:829-834.
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