Results 141 to 150 of about 1,207 (150)

Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma

Journal of Medical Genetics, 2012
Background Punctate palmoplantar keratoderma (PPPK) is a rare autosomal dominant skin disorder characterised by numerous hyperkeratotic papules irregularly distributed on the palms and soles. To date, no causal gene for this disease has been identified. Methods
Guo, Bi-Rong, Zhang, Xin, Chen, Gang, Zhang, Jian-Guo, Sun, Liang-Dan, Du, Wei-Dong, Zhang, Qing, Cui, Yong, Zhu, Jun, Tang, Xian-Fa, Xiao, Ruo, Liu, Yuan, Li, Min, Tang, Hua-Yang, Yang, Xu, Cheng, Hui, Li, Ming, Gao, Min, Li, Ping, Wang, Jian-Bo, Xu, Feng-Ping, Zuo, Xian-Bo, Zheng, Xiao-Dong, Zhang, Xiao-Guang, Yang, Lin, Liu, Jian-Jun, Wang, Jun, Yang, Sen, Zhang, Xue-Jun   +28 more
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Refined localization of a punctate palmoplantar keratoderma gene to a 5.06-cM region at 15q22.2-15q22.31

British Journal of Dermatology, 2005
Punctate palmoplantar keratoderma (PPK) is a rare autosomal dominant cutaneous disorder characterized by numerous hyperkeratotic papules distributed on the palms and soles. Two loci for punctate PPK were recently found to be located on 8q24.13-8q24.21 and 15q22-15q24. However, no genes for this disease have been identified to date. Objectives To refine
M, Gao, S, Yang, M, Li, K L, Yan, Y X, Jiang, Y, Cui, F L, Xiao, Y J, Shen, J J, Chen, J B, Liu, S J, Xu, W, Huang, X J, Zhang   +12 more
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Alitretinoin in punctate palmoplantar keratoderma

British Journal of Dermatology, 2018
P. Yilmaz, M. Medvecz, J. Kohlhase, J. Küsel, J. Fischer, C. Has   +5 more
openaire   +3 more sources

[Focal familial palmoplantar keratoderma with punctate hyperkeratosis of the palmar creases].

Annales de dermatologie et de venereologie, 1999
Keratosis punctata of the palmar creases is a variant of punctata palmoplantar keratoderma.Keratosis punctata of the palmar creases was observed in a 53 year-old North African male. The lesions presented as small keratotic papules confined exclusively to the flexion creases of the palms and digits, with a bilateral localization on the soles.
L, Fond, J L, Perrot, A, Gentil-Perret, J F, Mosnier, J L, Michel, F, Cambazard   +5 more
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[Molecular genetic study of a family affected with punctate palmoplantar keratoderma].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2017
To analyze the clinical characteristics and causative mutation in an ethnic Han Chinese family affected with punctate palmoplantar keratoderma (PPPK).Clinical characteristics and inheritance pattern of the family were analyzed. Two seriously affected individuals from the family were investigated by whole exome sequencing. Three healthy individuals from
Yueqin, Jia, Shaowei, Wang, Yingyu, Zhu, Dan, Luo   +3 more
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Cole Disease: Guttate Hypopigmentation and Punctate Palmoplantar Keratoderma

Archives of Dermatology, 2009
Megan M. Moore, Seth J. Orlow, Hideko Kamino, Nadia Wang, Julie V. Schaffer   +4 more
openaire   +1 more source

Image Gallery: Unilaterally dominant acrokeratoelastoidosis (punctate palmoplantar keratoderma type 3)

British Journal of Dermatology, 2017
T. Taki, Y. Ogawa, A. Sakakibara, M. Kono, M. Akiyama   +4 more
openaire   +1 more source

Punctate palmoplantar keratoderma: an unusual mutation causing an unusual phenotype

British Journal of Dermatology, 2018
D. Vodo, O. Sarig, D. Jeddah, N. Malchin, M. Eskin-Schwarz, J. Mohamad, T. Rabinowitz, I. Goldberg, N. Shomron, Z. Khamaysi, R. Bergman, E. Sprecher   +11 more
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Hyperkeratotic Plaques on the Extensor Extremities and Punctate Palmoplantar Keratoderma in a Boy

2022
Shashank Bhargava, George Kroumpouzos
openaire   +1 more source

[Autosomal dominant punctate palmoplantar keratoderma (Buschke-Fischer-Brauer disease)].

Annales de dermatologie et de venereologie, 2007
N, Kluger, D, Augias, B, Guillot
openaire   +1 more source