دورية أكاديمية
Keratin 17 mutations in four families from India with pachyonychia congenita
| العنوان: | Keratin 17 mutations in four families from India with pachyonychia congenita |
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| المؤلفون: | Manoj Agarwala, Pankaj Salphale, Dincy Peter, Neil J Wilson, Susanne Pulimood, Mary E Schwartz, Frances J D Smith |
| المصدر: | Indian Journal of Dermatology, Vol 62, Iss 4, Pp 422-426 (2017) |
| بيانات النشر: | Wolters Kluwer Medknow Publications, 2017. |
| سنة النشر: | 2017 |
| المجموعة: | LCC:Dermatology |
| مصطلحات موضوعية: | Cysts, keratin, keratin mutation, nail dystrophy, pachyonychia congenita, palmoplantar keratoderma, plantar pain, Dermatology, RL1-803 |
| الوصف: | Pachyonychia congenita (PC) is a rare autosomal dominant genetic skin disorder due to a mutation in any one of the five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17. The main features are palmoplantar keratoderma, plantar pain, and nail dystrophy. Cysts of various types, follicular hyperkeratosis, oral leukokeratosis, hyperhidrosis, and natal teeth may also be present. Four unrelated Indian families presented with a clinical diagnosis of PC. This was confirmed by genetic testing; mutations in KRT17 were identified in all affected individuals. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 0019-5154 1998-3611 |
| Relation: | http://www.e-ijd.org/article.asp?issn=0019-5154;year=2017;volume=62;issue=4;spage=422;epage=426;aulast=Agarwala; https://doaj.org/toc/0019-5154; https://doaj.org/toc/1998-3611 |
| DOI: | 10.4103/ijd.IJD_321_16 |
| URL الوصول: | https://doaj.org/article/5ad5819a6ab04cab8722c9995bc99a0e |
| رقم الأكسشن: | edsdoj.5ad5819a6ab04cab8722c9995bc99a0e |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 00195154 19983611 |
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| DOI: | 10.4103/ijd.IJD_321_16 |