Kindler syndrome: a close mimic of dyskeratosis congenita and the need to distinguish the two clinical entities.
作者信息
Kapoor Shailendra
出版信息
Oman Med J. 2014 Mar;29(2):147. doi: 10.5001/omj.2014.37.
Abstract
摘要
相似文献
1
Kindler syndrome: a close mimic of dyskeratosis congenita and the need to distinguish the two clinical entities.
Oman Med J. 2014 Mar;29(2):147. doi: 10.5001/omj.2014.37.
2
Kindler syndrome.
Indian J Dermatol Venereol Leprol. 2005 Sep-Oct;71(5):348-50. doi: 10.4103/0378-6323.16788.
3
Liver Transplantation After Bone Marrow Transplantation for End Stage Liver Disease with Severe Hepatopulmonary Syndrome in Dyskeratosis Congenita: A Literature First.
J Clin Exp Hepatol. 2015 Dec;5(4):344-7. doi: 10.1016/j.jceh.2015.10.003. Epub 2015 Nov 12.
4
Dyskeratosis congenita and telomerase.
Curr Opin Pediatr. 2004 Feb;16(1):23-8. doi: 10.1097/00008480-200402000-00006.
5
Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan.
Int J Hematol. 2015 Nov;102(5):544-52. doi: 10.1007/s12185-015-1861-6. Epub 2015 Sep 2.
6
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.
Proc Natl Acad Sci U S A. 2008 Jun 10;105(23):8073-8. doi: 10.1073/pnas.0800042105. Epub 2008 Jun 3.
7
Telomere length is associated with disease severity and declines with age in dyskeratosis congenita.
Haematologica. 2012 Mar;97(3):353-9. doi: 10.3324/haematol.2011.055269. Epub 2011 Nov 4.
8
Allogeneic hematopoietic stem cell transplantation for dyskeratosis congenita.
Curr Opin Hematol. 2016 Nov;23(6):501-507. doi: 10.1097/MOH.0000000000000290.
9
Hematopoietic cell transplantation in Fanconi anemia and dyskeratosis congenita: A minireview.
Hematol Oncol Stem Cell Ther. 2017 Dec;10(4):285-289. doi: 10.1016/j.hemonc.2017.05.014. Epub 2017 Jun 15.
10
Development of metachronous rectal cancers in a young man with dyskeratosis congenita: a case report.
J Med Case Rep. 2019 Apr 27;13(1):117. doi: 10.1186/s13256-019-2044-5.
本文引用的文献
1
Dyskeratosis congenita- management and review of complications: a case report.
Oman Med J. 2013 Jul;28(4):281-4. doi: 10.5001/omj.2013.78.
2
Induction of senescence pathways in Kindler syndrome primary keratinocytes.
Br J Dermatol. 2013 May;168(5):1019-26. doi: 10.1111/bjd.12184. Epub 2013 Apr 2.
3
Corneal erosion and Kindler syndrome.
Optom Vis Sci. 2013 Jan;90(1):e9-10. doi: 10.1097/OPX.0b013e3182780c16.
4
Cutaneous and laryngeal squamous cell carcinoma in mixed epidermolysis bullosa, kindler syndrome.
Case Rep Dermatol. 2012 May;4(2):133-8. doi: 10.1159/000339619. Epub 2012 Jun 19.
5
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.
Hum Mutat. 2011 Nov;32(11):1204-12. doi: 10.1002/humu.21576. Epub 2011 Sep 20.
6
[Corneal lesions in Kindler syndrome: a case report].
J Fr Ophtalmol. 2012 Jan;35(1):46.e1-5. doi: 10.1016/j.jfo.2011.01.022. Epub 2011 Jun 17.
7
Novel and recurrent FERMT1 gene mutations in Kindler syndrome.
Acta Derm Venereol. 2011 May;91(3):267-70. doi: 10.2340/00015555-1063.
8
Kindler syndrome causing severe cicatricial ectropion.
Ophthalmic Plast Reconstr Surg. 2010 Sep-Oct;26(5):368-9. doi: 10.1097/IOP.0b013e3181c4dff6.
9
Kindler syndrome: a study of five Egyptian cases with evaluation of severity.
Int J Dermatol. 2008 Jul;47(7):658-62. doi: 10.1111/j.1365-4632.2008.03721.x.
10
Unusual molecular findings in Kindler syndrome.
Br J Dermatol. 2007 Dec;157(6):1252-6. doi: 10.1111/j.1365-2133.2007.08159.x. Epub 2007 Sep 13.
Zotero 插件