Bi-allelic pathogenic variants in HS2ST1 cause a syndrome characterized by developmental delay and corpus callosum, skeletal and renal abnormalities
- Submitting institution
-
University of Nottingham, The
- Unit of assessment
- 1 - Clinical Medicine
- Output identifier
- 4964906
- Type
- D - Journal article
- DOI
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10.1016/j.ajhg.2020.10.007
- Title of journal
- American Journal of Human Genetics
- Article number
- -
- First page
- 1044
- Volume
- 107
- Issue
- 6
- ISSN
- 0002-9297
- Open access status
- Compliant
- Month of publication
- December
- Year of publication
- 2020
- URL
-
-
- 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
- Yes
- Number of additional authors
-
12
- Research group(s)
-
C - Cancer and Stem Cell
- Citation count
- 1
- Proposed double-weighted
- No
- Reserve for an output with double weighting
- No
- Additional information
- -
- Author contribution statement
- -
- Non-English
- No
- English abstract
- -
