Early diagnosis of Schöpf‐Schulz‐Passarge syndrome by whole‐exome sequencing: the first Chinese case

医学 外显子组测序 大学医院 综合医院 家庭医学 遗传学 生物 基因 突变
作者
J.‐N. Ren,H. Su,Ruzeng Xue,Yongfeng Chen
出处
期刊:Journal of The European Academy of Dermatology and Venereology [Wiley]
卷期号:36 (9): e722-e724
标识
DOI:10.1111/jdv.18228
摘要

Journal of the European Academy of Dermatology and VenereologyVolume 36, Issue 9 p. e722-e724 Letter to the Editor Early diagnosis of Schöpf-Schulz-Passarge syndrome by whole-exome sequencing: the first Chinese case J.-N. Ren, J.-N. Ren Dermatology Hospital, Southern Medical University, Guangzhou, ChinaJun-Nan Ren and Hang Su contributed equally to the manuscript.Search for more papers by this authorH. Su, H. Su Dermatology Hospital, Southern Medical University, Guangzhou, ChinaJun-Nan Ren and Hang Su contributed equally to the manuscript.Search for more papers by this authorR.-Z. Xue, R.-Z. Xue Dermatology Hospital, Southern Medical University, Guangzhou, ChinaSearch for more papers by this authorY.-F. Chen, Corresponding Author Y.-F. Chen [email protected] orcid.org/0000-0001-6009-9354 Dermatology Hospital, Southern Medical University, Guangzhou, ChinaCorrespondence: Y.-F. Chen. E-mail: [email protected]Search for more papers by this author J.-N. Ren, J.-N. Ren Dermatology Hospital, Southern Medical University, Guangzhou, ChinaJun-Nan Ren and Hang Su contributed equally to the manuscript.Search for more papers by this authorH. Su, H. Su Dermatology Hospital, Southern Medical University, Guangzhou, ChinaJun-Nan Ren and Hang Su contributed equally to the manuscript.Search for more papers by this authorR.-Z. Xue, R.-Z. Xue Dermatology Hospital, Southern Medical University, Guangzhou, ChinaSearch for more papers by this authorY.-F. Chen, Corresponding Author Y.-F. Chen [email protected]63.com orcid.org/0000-0001-6009-9354 Dermatology Hospital, Southern Medical University, Guangzhou, ChinaCorrespondence: Y.-F. Chen. E-mail: [email protected]Search for more papers by this author First published: 19 May 2022 https://doi.org/10.1111/jdv.18228 Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. References 1Ismail FF, McGrath J, Sinclair R. Schopf-Schulz-Passarge syndrome: a rare ectodermal dysplasia with a delayed diagnosis. Int J Dermatol 2020; 59: 257– 258. 2Zimmermann CE, Soufi M, Ruppert V, Schaefer JR, von Domarus H. Schopf-Schulz-Passarge syndrome: previously unreported WNT10A genotype and phenotypes in 9 family members. Acta Derm Venereol 2019; 99: 113– 114. 3Doolan BJ, Onoufriadis A, Kantaputra P, McGrath JA. WNT10A, dermatology and dentistry. Br J Dermatol 2021; 185: 1105– 1111. 4Richards S, Aziz N, Bale S et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17: 405– 424. 5Adams BB. Odonto-onycho-dermal dysplasia syndrome. J Am Acad Dermatol 2007; 57: 732– 733. Volume36, Issue9September 2022Pages e722-e724 ReferencesRelatedInformation
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