Condition: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION


rs387906668 in ACP5;ZNF627 gene and SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION PMID 21217755 2011 Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.

PMID 21217752 2011 Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.

rs1449857485 in ZNF627;ACP5 gene and SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION PMID 21217752 2011 Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.

PMID 21217755 2011 Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.