推荐同事 机构合作 中文 繁體中文 English 한국어 日本語 Português Español

美国ACCDON公司旗下品牌

021-33361733，021-33632861

chinasupport@letpub.com

登录 注册 新注册优惠

Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus

JC Ravenscroft, M Suri, GI Rice… - American Journal of …, 2011 - Wiley Online Library
How to Cite this Article: Ravenscroft JC, Suri M, Rice GI, Szynkiewicz M, Crow YJ. 2010. Autosomal
dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain
lupus. Am J Med Genet Part A 155:235–237. ... No abstract is available for this article.
Cited by 4 - Related articles - All 2 versions

Aicardi-Goutières Syndrome and Systemic Lupus Erythematosus (SLE) in a 12-Year-Old Boy With SAMHD1 Mutations

G Ramantani, M Häusler, P Niggemann… - Journal of Child …, 2011 - jcn.sagepub.com
... brittle. Since the age of 3 years, he presented with erythematous ulcerating lesions,
also known as chilblain lesions, on fingers, heels, toes, and nose (Figure 2). In addition,
recurrent ulcers of the oral mucosa and lips appeared. ...
Related articles - All 2 versions

Chronic chilblains

IH Souwer… - BMJ, 2011 - bmj.com
... Although up to a third of cases of chronic chilblains are reported to be diagnosed as chilblain
lupus erythematosus, the proportion of patients with chilblains in a group with systemic lupus
erythematosus did not differ from patients in the control group.3 Persistence of lesions ...
Related articles - All 3 versions

Cerebral Arterial Stenoses and Stroke: Novel Features of Aicardi-Goutières Syndrome Caused by the Arg164X Mutation in< i> SAMHD1</i> Are Associated with …

[PDF] from peerproject.euF Rutsch, H Thiele, M du Moulin, K Barczyk… - 2011 - repository.peerproject.eu
... ABSTRACT: Aicardi-Goutières syndrome (AGS) is a rare inborn multisystemic disease,
resembling intrauterine viral infection and resulting in psychomotor retardation, spasticity and
chilblain-like skin lesions. ... Cataract + + - - Skin Chilblain-like lesions - + + + ...
Related articles

[PDF] A Case of Systemic Sclerosis with Sarcoidosis

[PDF] from medicaljournals.seH Suga, Y Asano, Z Tamaki… - Acta dermato- …, 2011 - medicaljournals.se
... 1b). The patient also had indurated chilblain-like erythema on the palms (Fig. 1c). Raynaud's
phenomenon and nailfold bleeding were seen. ... (b) A shiny and up to egg- sized sclerotic plaque
on the right buttock. (c) Indurated chilblain-like erythema on the palm. Page 2. ...
Related articles - View as HTML - All 3 versions

联系我们 | 站点地图 | 友情链接 | 授权代理商 | 加入我们

© 2010-2024 中国: LetPub上海分公司    网站备案号：沪ICP备10217908号-1    沪公网安备号：31010402006960

增值电信业务经营许可证：沪B2-20211595

礼翰商务信息咨询（上海）有限公司      办公地址：上海市徐汇区漕溪北路88号圣爱大厦1803室

United States: Tel: 1-781-202-9968 Address: 400 5th Ave, Suite 530, Waltham, Massachusetts 02451