以皮肤表现为主的罗思蒙德-汤姆森综合征的罕见表现。 - Suppr

Suppr

超能文献

Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings.

作者信息

Yang Ji Young, Sohn Young Bae, Lee Jin-Sung, Jang Ja-Hyun, Lee Eun-So

机构信息

Department of Dermatology, Ajou University School of Medicine, Suwon, Korea.

Department of Medical Genetics, Ajou University School of Medicine, Suwon, Korea.

出版信息

JAAD Case Rep. 2017 Apr 14;3(3):172-174. doi: 10.1016/j.jdcr.2017.01.023. eCollection 2017 May.

DOI:10.1016/j.jdcr.2017.01.023

PMID:28443301

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5394190/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8db6/5394190/43059d321a26/gr1.jpg

相似文献

Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings.

JAAD Case Rep. 2017 Apr 14;3(3):172-174. doi: 10.1016/j.jdcr.2017.01.023. eCollection 2017 May.

[Rothmund-Thomson syndrome, trisomy 8 mosaicism and RECQ4 gene mutation].

Ann Dermatol Venereol. 2002 Jun-Jul;129(6-7):892-5.

Rare Presentation of a Rare Disease: Signet-Ring Cell Gastric Adenocarcinoma in Rothmund-Thomson Syndrome.

Cureus. 2020 Dec 3;12(12):e11865. doi: 10.7759/cureus.11865.

Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders.

Ageing Res Rev. 2017 Jan;33:30-35. doi: 10.1016/j.arr.2016.06.002. Epub 2016 Jun 7.

Rothmund-Thomson syndrome (RTS) with osteosarcoma due to mutation.

BMJ Case Rep. 2018 Jan 23;2018:bcr-2017-222384. doi: 10.1136/bcr-2017-222384.

Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome.

Gene. 2018 May 15;654:110-115. doi: 10.1016/j.gene.2018.02.047. Epub 2018 Feb 17.

Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome.

Eur J Pediatr. 2017 Feb;176(2):279-283. doi: 10.1007/s00431-016-2834-3. Epub 2016 Dec 30.

Rothmund-Thomson syndrome and osteosarcoma.

Med Pediatr Oncol. 1996 Jun;26(6):414-6. doi: 10.1002/(SICI)1096-911X(199606)26:6<414::AID-MPO8>3.0.CO;2-K.

Delayed Union of a Jones Fracture in a Patient With Rothmund-Thomson Syndrome: A Case Report and Review of the Literature.

J Foot Ankle Surg. 2016 Mar-Apr;55(2):291-3. doi: 10.1053/j.jfas.2014.09.009. Epub 2014 Oct 18.

Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.

J Natl Cancer Inst. 2003 May 7;95(9):669-74. doi: 10.1093/jnci/95.9.669.

引用本文的文献

Rare presentation of Rothmund-Thomson syndrome with novel compound heterozygous mutations of the RECQL4 gene.

An Bras Dermatol. 2020 Jul-Aug;95(4):538-540. doi: 10.1016/j.abd.2019.10.006. Epub 2020 May 14.

Histopathologic features of Rothmund-Thomson syndrome.

JAAD Case Rep. 2019 Aug 5;5(8):726-728. doi: 10.1016/j.jdcr.2019.06.017. eCollection 2019 Aug.

本文引用的文献

Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.

Eur J Hum Genet. 2014 Nov;22(11):1298-304. doi: 10.1038/ejhg.2014.18. Epub 2014 Feb 12.

Clinical utility gene card for: Rothmund-Thomson syndrome.

Eur J Hum Genet. 2013 Jul;21(7). doi: 10.1038/ejhg.2012.260. Epub 2012 Nov 28.

Rothmund-Thomson syndrome.

Orphanet J Rare Dis. 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2.

Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes.

Eur J Pediatr. 2008 Feb;167(2):175-81. doi: 10.1007/s00431-007-0447-6. Epub 2007 Mar 20.

Molecular and diagnostic aspects of genetic skin fragility.

J Dermatol Sci. 2006 Dec;44(3):129-44. doi: 10.1016/j.jdermsci.2006.08.003. Epub 2006 Sep 22.

What is poikiloderma?

Dermatology. 2003;207(3):243-5. doi: 10.1159/000073082.

Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.

Am J Med Genet. 2001 Jul 22;102(1):11-7. doi: 10.1002/1096-8628(20010722)102:1<11::aid-ajmg1413>3.0.co;2-a.

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

相似文献

Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings.

JAAD Case Rep. 2017 Apr 14;3(3):172-174. doi: 10.1016/j.jdcr.2017.01.023. eCollection 2017 May.

[Rothmund-Thomson syndrome, trisomy 8 mosaicism and RECQ4 gene mutation].

Ann Dermatol Venereol. 2002 Jun-Jul;129(6-7):892-5.

Rare Presentation of a Rare Disease: Signet-Ring Cell Gastric Adenocarcinoma in Rothmund-Thomson Syndrome.

Cureus. 2020 Dec 3;12(12):e11865. doi: 10.7759/cureus.11865.

Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders.

Ageing Res Rev. 2017 Jan;33:30-35. doi: 10.1016/j.arr.2016.06.002. Epub 2016 Jun 7.

Rothmund-Thomson syndrome (RTS) with osteosarcoma due to mutation.

BMJ Case Rep. 2018 Jan 23;2018:bcr-2017-222384. doi: 10.1136/bcr-2017-222384.

Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome.

Gene. 2018 May 15;654:110-115. doi: 10.1016/j.gene.2018.02.047. Epub 2018 Feb 17.

Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome.

Eur J Pediatr. 2017 Feb;176(2):279-283. doi: 10.1007/s00431-016-2834-3. Epub 2016 Dec 30.

Rothmund-Thomson syndrome and osteosarcoma.

Med Pediatr Oncol. 1996 Jun;26(6):414-6. doi: 10.1002/(SICI)1096-911X(199606)26:6<414::AID-MPO8>3.0.CO;2-K.

Delayed Union of a Jones Fracture in a Patient With Rothmund-Thomson Syndrome: A Case Report and Review of the Literature.

J Foot Ankle Surg. 2016 Mar-Apr;55(2):291-3. doi: 10.1053/j.jfas.2014.09.009. Epub 2014 Oct 18.

Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.

J Natl Cancer Inst. 2003 May 7;95(9):669-74. doi: 10.1093/jnci/95.9.669.

引用本文的文献

Rare presentation of Rothmund-Thomson syndrome with novel compound heterozygous mutations of the RECQL4 gene.

An Bras Dermatol. 2020 Jul-Aug;95(4):538-540. doi: 10.1016/j.abd.2019.10.006. Epub 2020 May 14.

Histopathologic features of Rothmund-Thomson syndrome.

JAAD Case Rep. 2019 Aug 5;5(8):726-728. doi: 10.1016/j.jdcr.2019.06.017. eCollection 2019 Aug.

本文引用的文献

Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.

Eur J Hum Genet. 2014 Nov;22(11):1298-304. doi: 10.1038/ejhg.2014.18. Epub 2014 Feb 12.

Clinical utility gene card for: Rothmund-Thomson syndrome.

Eur J Hum Genet. 2013 Jul;21(7). doi: 10.1038/ejhg.2012.260. Epub 2012 Nov 28.

Rothmund-Thomson syndrome.

Orphanet J Rare Dis. 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2.

Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes.

Eur J Pediatr. 2008 Feb;167(2):175-81. doi: 10.1007/s00431-007-0447-6. Epub 2007 Mar 20.

Molecular and diagnostic aspects of genetic skin fragility.

J Dermatol Sci. 2006 Dec;44(3):129-44. doi: 10.1016/j.jdermsci.2006.08.003. Epub 2006 Sep 22.

What is poikiloderma?

Dermatology. 2003;207(3):243-5. doi: 10.1159/000073082.

Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.

Am J Med Genet. 2001 Jul 22;102(1):11-7. doi: 10.1002/1096-8628(20010722)102:1<11::aid-ajmg1413>3.0.co;2-a.