JOURNAL ARTICLE

Chromosome 8 inversion mutation in congenital generalized hypertrichosis: localization of precise breakpoints.

  • Published In: British Journal of Dermatology, 2025, v. 192. P. 355 1 of 3

  • Database: Academic Search Ultimate 2 of 3

  • Authored By: Zhao, Anqi; Cao, Qiaoyu; Pan, Chaolan; Wang, Xiaoxiao; Wang, Yumeng; Li, Ming 3 of 3

Abstract

The article published in the British Journal of Dermatology discusses a rare genodermatosis called Congenital Generalized Hypertrichosis (CGH), characterized by excessive hair growth from birth. The study identifies a three-generation CGH family with an inversion variant on chromosome 8, pinpointing precise breakpoints. The mutation involves approximately 224 genes, including HAS2-AS1 and KCNK9, suggesting potential overlap with Cantú syndrome. Further research is needed to understand the underlying mechanisms and distinguish this variant from other known cases of CGH. [Extracted from the article]

Additional Information

  • Source:British Journal of Dermatology. 2025/02, Vol. 192, p355
  • Document Type:Article
  • Subject Area:Health and Medicine
  • Publication Date:2025
  • ISSN:0007-0963
  • DOI:10.1093/bjd/ljae383
  • Accession Number:182849263
  • Copyright Statement:Copyright of British Journal of Dermatology is the property of Oxford University Press / USA and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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