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Spondyloepimetaphyseal dysplasia, Pakistani type : ウィキペディア英語版 | Spondyloepimetaphyseal dysplasia, Pakistani type
Spondyloepimetaphyseal dysplasia, Pakistani type is a form of spondyloepimetaphyseal dysplasia involving ''PAPSS2'' (also known as "ATPSK2"). The condition is rare. ==Genetics==
This 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 (10q22-q24).
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