Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome.

@article{Cragun2004UndetectableMS,
  title={Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome.},
  author={Deborah Cragun and Sharon K Trumpy and Cedric H. L. Shackleton and Richard I Kelley and Nancy D Leslie and Neil P. Mulrooney and Robert J Hopkin},
  journal={American journal of medical genetics. Part A},
  year={2004},
  volume={129A 1},
  pages={1-7}
}
Antley-Bixler syndrome (ABS) is a rare condition characterized by radiohumeral synostosis, craniosynostosis, midface hypoplasia, bowing of the femora, multiple joint contractures, and urogenital defects. Several reports have implicated errors of steroid or sterol metabolism in the pathogenesis of ABS. Evidence for this has included association with maternal luteomas, fetal 21-hydroxylase deficiency, early pregnancy exposure to high-dose fluconazole, lanosterol 14-alpha-demethylase deficiency… CONTINUE READING
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