Associated Papers
Spondyloenchondrodysplasia: An enigmatic immuno-osseus type I interferonopathy.
Wong CCY et al.
Journal of Human Immunity, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Novel Mutations in ACP5 and SAMHD1 in a Patient With Pediatric Systemic Lupus Erythematosus.
Hong SM et al.
Frontiers in Pediatrics, 2022
Characterisation of ACP5 missense mutations encoding tartrate-resistant acid phosphatase associated with spondyloenchondrodysplasia.
Ramesh J et al.
Plos One, 2020
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.
Briggs TA et al.
Journal of Clinical Immunology, 2016
Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 Deficiency.
de Bruin C et al.
Hormone Research in Paediatrics, 2016
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.
Briggs TA et al.
Nature Genetics, 2011
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