Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3β-Hydroxysterol Δ(14)-Reductase Deficiency Due to Mutations in the Lamin B Receptor Gene

Hydrops-ectopic calcification-“moth-eaten” (HEM) or Greenberg skeletal dysplasia is an autosomal recessive chondrodystrophy with a lethal course, characterized by fetal hydrops, short limbs, and abnormal chondro-osseous calcification. We found elevated levels of cholesta-8,14-dien-3β-ol in cultured...

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Bibliografische gegevens
Hoofdauteurs: Waterham, Hans R., Koster, Janet, Mooyer, Petra, Noort, Gerard van, Kelley, Richard I., Wilcox, William R., Wanders, Ronald J. A., Hennekam, Raoul C. M., Oosterwijk, Jan C.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: The American Society of Human Genetics 2003
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180330/
https://ncbi.nlm.nih.gov/pubmed/12618959
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