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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Placental steroid deficiency: association with arylsulfatase A deficiency.

A family with an obstetric history consistent with placental sulfatase deficiency has X-linked ichthyosis. Steroid sulfatase deficiency was confirmed in placenta, leukocytes, and cultured skin fibroblasts of affected males; arylsulfatase A diminution was also observed in these tissues of both affected males and 2 generations of related females. No symptoms of metachromatic leukodystrophy are present in any family members. In this family, placental sulfatase deficiency, and arylsulfatase A pseudodeficiency are nonallelic.[1]

References

  1. Placental steroid deficiency: association with arylsulfatase A deficiency. Vidgoff, J., Buxman, M.M., Shapiro, L.J., Dimond, R.L., Wilson, T.G., Hepburn, C.A., Tabei, T., Heinrichs, W.R. Am. J. Hum. Genet. (1982) [Pubmed]
 
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