Detection and characterization of low‐level mosaicism among clinically unaffected parents of 'sporadic' epidermolysis bullosa simplex cases. (1st September 2022)
- Record Type:
- Journal Article
- Title:
- Detection and characterization of low‐level mosaicism among clinically unaffected parents of 'sporadic' epidermolysis bullosa simplex cases. (1st September 2022)
- Main Title:
- Detection and characterization of low‐level mosaicism among clinically unaffected parents of 'sporadic' epidermolysis bullosa simplex cases
- Authors:
- Chen, Fuying
Deng, Dan
Pan, Chaolan
Yao, Zhirong
Gu, Yan
Li, Ming - Abstract:
- Abstract: In this study, two (18.2%) clinically unaffected parents from 11 trios were identified with mosaic KRT14 variants.To our knowledge, this is the first report to study the proportion of low‐level mosaicism in the clinically unaffected parents whose children were previously regarded as sporadic EBS cases.
- Is Part Of:
- British journal of dermatology. Volume 187:Number 3(2022)
- Journal:
- British journal of dermatology
- Issue:
- Volume 187:Number 3(2022)
- Issue Display:
- Volume 187, Issue 3 (2022)
- Year:
- 2022
- Volume:
- 187
- Issue:
- 3
- Issue Sort Value:
- 2022-0187-0003-0000
- Page Start:
- 441
- Page End:
- 443
- Publication Date:
- 2022-09-01
- Subjects:
- Dermatology -- Periodicals
Skin -- Diseases -- Periodicals
616.5 - Journal URLs:
- http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1365-2133 ↗
https://academic.oup.com/bjd ↗
http://onlinelibrary.wiley.com/ ↗ - DOI:
- 10.1111/bjd.21059 ↗
- Languages:
- English
- ISSNs:
- 0007-0963
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - 2307.400000
British Library DSC - BLDSS-3PM
British Library STI - ELD Digital store - Ingest File:
- 25206.xml