标题
Olmsted syndrome: clinical, molecular and therapeutic aspects
作者
关键词
Olmsted syndrome, Palmoplantar keratoderma, Periorificial keratotic plaques, Clinical heterogeneity, TRPV3, MBTPS2
出版物
Orphanet Journal of Rare Diseases
Volume 10, Issue 1, Pages -
出版商
Springer Nature
发表日期
2015-03-16
DOI
10.1186/s13023-015-0246-5
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- A Gain-of-Function Mutation in TRPV3 Causes Focal Palmoplantar Keratoderma in a Chinese Family
- (2015) Yuqing He et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations
- (2014) S. Duchatelet et al. BRITISH JOURNAL OF DERMATOLOGY
- Olmsted syndrome in an Iranian boy with a newde novomutation inTRPV3
- (2014) A. Kariminejad et al. CLINICAL AND EXPERIMENTAL DERMATOLOGY
- Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
- (2014) Ori Eytan et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- Olmsted syndrome with oral involvement, including premature teeth loss
- (2014) Ahmed K. Alotaibi et al. Odontology
- A NewTRPV3Missense Mutation in a Patient With Olmsted Syndrome and Erythromelalgia
- (2014) Sabine Duchatelet et al. JAMA Dermatology
- Recurrent splice-site mutation in MBTPS2underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient
- (2013) H. J. Wang et al. CLINICAL AND EXPERIMENTAL DERMATOLOGY
- TRPV3: a ‘more than skinny’ channel
- (2013) Bernd Nilius et al. EXPERIMENTAL DERMATOLOGY
- TRPV3: time to decipher a poorly understood family member!
- (2013) Bernd Nilius et al. JOURNAL OF PHYSIOLOGY-LONDON
- Olmsted syndrome: exploration of the immunological phenotype
- (2013) Dina Danso-Abeam et al. Orphanet Journal of Rare Diseases
- Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome
- (2012) Zhimiao Lin et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome
- (2012) J.E. Lai-Cheong et al. BRITISH JOURNAL OF DERMATOLOGY
- p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome
- (2012) Giustina Ferone et al. HUMAN MOLECULAR GENETICS
- Olmsted syndrome: A new case complicated with easily broken hair and treated with oral retinoid
- (2012) Li TANG et al. JOURNAL OF DERMATOLOGY
- A Missense Mutation in the MBTPS2 Gene Underlies the X-Linked Form of Olmsted Syndrome
- (2012) Alireza Haghighi et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
- (2011) Hala Mégarbané et al. Orphanet Journal of Rare Diseases
- Olmsted syndrome: Report of two cases
- (2011) GK Tharini et al. INDIAN JOURNAL OF DERMATOLOGY
- TRP Channel Regulates EGFR Signaling in Hair Morphogenesis and Skin Barrier Formation
- (2010) Xiping Cheng et al. CELL
- The Olmsted syndrome
- (2010) Omar Lupi R. Santos et al. INTERNATIONAL JOURNAL OF DERMATOLOGY
- Nonmutilating palmoplantar and periorificial kertoderma: a variant of Olmsted syndrome or a distinct entity?
- (2010) Ahmad Nofal et al. INTERNATIONAL JOURNAL OF DERMATOLOGY
- Olmsted syndrome
- (2009) Pramod Kumar et al. INDIAN JOURNAL OF DERMATOLOGY
- Olmsted syndrome: a case report and review of literature
- (2008) Juan Tao et al. INTERNATIONAL JOURNAL OF DERMATOLOGY
- Overexpressed Transient Receptor Potential Vanilloid 3 Ion Channels in Skin Keratinocytes Modulate Pain Sensitivity via Prostaglandin E2
- (2008) S. M. Huang et al. JOURNAL OF NEUROSCIENCE
- Palmoplantar Keratoderma and Skin Grafting: Postsurgical Long-term Follow-up of Two Cases with Olmsted Syndrome
- (2008) Marie-Sophie Bédard et al. PEDIATRIC DERMATOLOGY
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