Suppr超能文献

Infantile systemic hyalinosis: a report of two new cases, one with prolonged survival.

作者信息

Elenga Narcisse, Chenel Claude, Besnard Marianne, Pasche Jérôme, Darteyre Stéphane, Gatti Hélène, De Barthez Marie-Paule, Yang Francisca, Verloes Alain

机构信息

Paediatric Unit, Cayenne Hospital, BP 6006, 97306 Cayenne Cedex, French Guiana.

Paediatric Unit, Taaone Hospital, BP 1640-98713 PAPEETE, French Polynesia.

出版信息

Eur J Dermatol. 2017 Jun 1;27(3):328-329. doi: 10.1684/ejd.2017.3007.

Abstract
摘要

相似文献

1
Infantile systemic hyalinosis: a report of two new cases, one with prolonged survival.
Eur J Dermatol. 2017 Jun 1;27(3):328-329. doi: 10.1684/ejd.2017.3007.
2
Novel variation in ANTXR2 gene causing hyaline fibromatosis syndrome: A report from India.
Congenit Anom (Kyoto). 2021 Jul;61(4):140-141. doi: 10.1111/cga.12414. Epub 2021 Mar 23.
3
Systemic Hyalinosis With Heterozygous CMG2 Mutations: A Case Report and Review of Literature.
Am J Dermatopathol. 2016 May;38(5):e60-3. doi: 10.1097/DAD.0000000000000467.
4
Infantile Systemic Hyalinosis with Mutation in ANTXR2.
Indian J Pediatr. 2016 Nov;83(11):1356-1357. doi: 10.1007/s12098-015-1990-1. Epub 2016 Jan 25.
5
Infantile systemic hyalinosis in an Iranian family with a mutation in the CMG2/ANTXR2 gene.
Clin Exp Dermatol. 2015 Aug;40(6):636-9. doi: 10.1111/ced.12616. Epub 2015 Mar 7.
6
Hyaline fibromatosis syndrome resulting from a new homozygous missense mutation, p.Gly116Val, in ANTXR2.
J Dermatol. 2013 Aug;40(8):677-8. doi: 10.1111/1346-8138.12182. Epub 2013 Jun 5.
7
Infantile Systemic Hyalinosis: Novel Founder Mutation in the Initiation Codon among "Malis (Farmers)" in Jodhpur.
Indian J Pediatr. 2016 Nov;83(11):1341-1345. doi: 10.1007/s12098-016-2218-8. Epub 2016 Oct 18.
8
Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 Gene.
Acta Derm Venereol. 2017 Jan 4;97(1):108-109. doi: 10.2340/00015555-2459.
9
[Infantile systemic hyalinosis: a case report and literature review].
Zhonghua Er Ke Za Zhi. 2016 Dec 2;54(12):946-949. doi: 10.3760/cma.j.issn.0578-1310.2016.12.015.
10
Different molecular consequences of frameshift mutations in the ANTXR2 gene.
Hum Mutat. 2013 Jul;34(7):v. doi: 10.1002/humu.22190.

引用本文的文献

1
The physical education and the Infantile Systemic Hyalinosis: A case report.
Heliyon. 2020 Jul 10;6(7):e04411. doi: 10.1016/j.heliyon.2020.e04411. eCollection 2020 Jul.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验