دورية أكاديمية
Sisters with no pain, no tears: A report of a new variant of hereditary sensory and autonomic neuropathy (Type IX) Caused by a novel SCN11A mutation
| العنوان: | Sisters with no pain, no tears: A report of a new variant of hereditary sensory and autonomic neuropathy (Type IX) Caused by a novel SCN11A mutation |
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| المؤلفون: | Shital Poojary, Saurabh Jaiswal, Kapisha Sunny Shah, Krishna B Bhalala |
| المصدر: | Indian Journal of Dermatology, Vol 65, Iss 4, Pp 299-303 (2020) |
| بيانات النشر: | Wolters Kluwer Medknow Publications, 2020. |
| سنة النشر: | 2020 |
| المجموعة: | LCC:Dermatology |
| مصطلحات موضوعية: | anhidrosis, hereditary sensory and autonomic neuropathy type ix, insensitivity to pain, scn11a gene, Dermatology, RL1-803 |
| الوصف: | Lack of pain sensation in children involves a rare group of heritable disorders; hereditary sensory and autonomic neuropathy (HSAN). Till date, eight types of HSAN have been described depending on the clinical phenotype and the underlying gene mutation. We report a new variant of HSAN (Type IX) in two siblings (of Indian origin) with a novel mutation of SCN11Agene and a distinct clinical phenotype. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 0019-5154 1998-3611 |
| العلاقة: | http://www.e-ijd.org/article.asp?issn=0019-5154;year=2020;volume=65;issue=4;spage=299;epage=303;aulast=PoojaryTest; https://doaj.org/toc/0019-5154Test; https://doaj.org/toc/1998-3611Test |
| DOI: | 10.4103/ijd.IJD_416_18 |
| الوصول الحر: | https://doaj.org/article/10009e9426e84734804c271a790590a4Test |
| رقم الانضمام: | edsdoj.10009e9426e84734804c271a790590a4 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 00195154 19983611 |
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| DOI: | 10.4103/ijd.IJD_416_18 |