A Case of Basal Cell Nevus Syndrome with a Known Mutation in the <i>PTCH1</i> Gene-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A Case of Basal Cell Nevus Syndrome with a Known Mutation in the <i>PTCH1</i> Gene

Published:2022-10-01 Issue:5 Volume:84 Page:425-428
ISSN:0386-9784
Container-title:Nishi Nihon Hifuka
language:en
Short-container-title:Nishinihon J Dermatol

Author:

HISAMOTO Takafumi¹,ASANO Nobuyuki¹,SHIMOMURA Yutaka¹

Affiliation:

1. Department of Dermatology, Yamaguchi University Graduate School of Medicine

Publisher

Western Japan Division of JDA

Subject

Dermatology

Link

https://www.jstage.jst.go.jp/article/nishinihonhifu/84/5/84_425/_pdf

Reference13 articles.

1. 1) Kimonis VE, Goldstein AM, Pastakia B et al : Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet, 1997 ; 69 : 299-308.

2. 2) Johnson RL, Rothman AL, Xie J et al : Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science, 1996 ; 272 : 1668-1671.

3. 3) 宮下俊之, 高山吉永 : Gorlin 症候群の遺伝子診断. 医のあゆみ, 2019 ; 268 : 123-126.

4. 4) Wilson LC, Ajayi-Obe E, Bernhard B, Maas SM : Patched mutations and hairy skin patches : a new sign in Gorlin syndrome. Am J Med Genet A, 2006 ; 140 : 2625-2630.

5. 5) Endo M, Fujii K, Sugita K, Saito K, Kohno Y, Miyashita T : Nationwide survey of nevoid basal cell carcinoma syndrome in Japan revealing the low frequency of basal cell carcinoma. Am J Med Genet A, 2012 ; 158 : 351-357.

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP