Spondyloepimetaphyseal dysplasia, Pakistani type
Spondyloepimetaphyseal dysplasia, Pakistani type is a form of spondyloepimetaphyseal dysplasia involving PAPSS2 (also known as "ATPSK2").[2] The condition is rare. GeneticsThis condition is inherited in an autosomal recessive fashion. It is due to mutations in the Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthetase 2 (PAPSS2) gene which is located on the long arm of chromosome 10 (10q23.2-q23.31).[3] Treatment
HistoryThis condition was first described in a large eight generation consanguineous Pakistani family.[citation needed] The causative mutation was identified in 1998.[4] References
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