Associated Papers
A novel heterozygous missense variant in ribosomal protein L21 associated with familial hypotrichosis simplex.
Rayinda T et al.
Clinical and Experimental Dermatology, 2023
At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children.
Balciuniene J et al.
Jama Network Open, 2023
Update of recent findings in genetic hair disorders.
Hayashi R et al.
The Journal of Dermatology, 2022
The ribosomal protein eL21 interacts with the protein lysine methyltransferase SMYD2 and regulates its steady state levels.
Khan MIK et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4
Genetics of human isolated hereditary hair loss disorders.
Basit S et al.
Clinical Genetics, 2015
Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex.
Zhou C et al.
Human Mutation, 2011
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