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Hereditary Sensory and Autonomic Neuropathy Type VIII: Congenital Insensitivity to Pain with Anhidrosis.

作者信息

Kusumesh Rakhi, Ambastha Anita, Singh Vivek, Singh Ankita

机构信息

Cornea and Ocular Surface Services, Regional Institute of Ophthalmology, Indira Gandhi Institute of Medical Sciences, Patna, Bihar, India.

Community Ophthalmology, Regional Institute of Ophthalmology, Indira Gandhi Institute of Medical Sciences, Patna, Bihar, India.

出版信息

Indian Dermatol Online J. 2022 Mar 3;13(2):257-258. doi: 10.4103/idoj.idoj_427_21. eCollection 2022 Mar-Apr.

DOI:10.4103/idoj.idoj_427_21
PMID:35287420
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8917500/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/07b3/8917500/787f5c2d41a3/IDOJ-13-257-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/07b3/8917500/787f5c2d41a3/IDOJ-13-257-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/07b3/8917500/787f5c2d41a3/IDOJ-13-257-g001.jpg

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Arch Iran Med. 2024 Apr 1;27(4):223-226. doi: 10.34172/aim.2024.32.
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Congenital insensitivity to pain associated with mutation: Two case reports and a literature review.与突变相关的先天性无痛觉：两例病例报告及文献综述。
Front Genet. 2023 Mar 20;14:1139161. doi: 10.3389/fgene.2023.1139161. eCollection 2023.

本文引用的文献

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Hereditary sensory autonomic neuropathy Type VIII: A rare clinical presentation, genomics, diagnosis, and management in an infant.遗传性感觉自主神经病 VIII 型：一名婴儿的罕见临床表现、基因组学、诊断及管理
J Indian Soc Pedod Prev Dent. 2020 Jul-Sep;38(3):315-318. doi: 10.4103/JISPPD.JISPPD_310_19.
2
Hereditary sensory and autonomic neuropathy in a male child: 'The other side of not feeling pain'.一名男童的遗传性感觉和自主神经病变：“无痛觉的另一面”
BMJ Case Rep. 2018 Sep 4;2018:bcr-2018-226873. doi: 10.1136/bcr-2018-226873.
3
Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature.
一名患有VIII型遗传性感觉和自主神经病变男孩的口腔表现、牙科处理及PRDM12基因罕见纯合突变：病例报告及文献复习
J Med Case Rep. 2017 Aug 15;11(1):233. doi: 10.1186/s13256-017-1387-z.
4
Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain.PRDM12先天性无痛觉患者诊断与管理的临床特征
J Med Genet. 2016 Aug;53(8):533-5. doi: 10.1136/jmedgenet-2015-103646. Epub 2016 Mar 14.
5
Transcriptional regulator PRDM12 is essential for human pain perception.转录调节因子PRDM12对人类疼痛感知至关重要。
Nat Genet. 2015 Jul;47(7):803-8. doi: 10.1038/ng.3308. Epub 2015 May 25.