Associated Papers
Spondyloenchondrodysplasia: An enigmatic immuno-osseus type I interferonopathy.
Wong CCY et al.
Journal of Human Immunity, 2025
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
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.
Lausch E et al.
Nature Genetics, 2011
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