Bi-allelic CCDC47 variants cause a disorder characterized by woolly hair, liver dysfunction, dysmorphic features, and global developmental delay
- Submitting institution
-
Cardiff University / Prifysgol Caerdydd
- Unit of assessment
- 5 - Biological Sciences
- Output identifier
- 96898074
- Type
- D - Journal article
- DOI
-
10.1016/j.ajhg.2018.09.014
- Title of journal
- American Journal of Human Genetics
- Article number
- -
- First page
- 794
- Volume
- 103
- Issue
- 5
- ISSN
- 0002-9297
- Open access status
- Deposit exception
- Month of publication
- October
- Year of publication
- 2018
- URL
-
http://dx.doi.org/10.1016/j.ajhg.2018.09.014
- Supplementary information
-
-
- Request cross-referral to
- -
- Output has been delayed by COVID-19
- No
- COVID-19 affected output statement
- -
- Forensic science
- No
- Criminology
- No
- Interdisciplinary
- No
- Number of additional authors
-
28
- Research group(s)
-
-
- Citation count
- 4
- Proposed double-weighted
- No
- Reserve for an output with double weighting
- No
- Additional information
- -
- Author contribution statement
- -
- Non-English
- No
- English abstract
- -
