Autosomal recessive HEM/greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol Delta(14)-reductase deficiency due to mutations in the lamin B receptor gene

Open Access
Authors
  • H.R. Waterham
  • J. Koster
  • P. Mooyer
  • G. van Noort
  • R.I. Kelley
  • W.R. Wilcox
  • R.J.A. Wanders
  • R.C.M. Hennekam
  • J.C. Oosterwijk
Publication date 2003
Journal American Journal of Human Genetics
Volume | Issue number 72
Pages (from-to) 1013-1017
Organisations
  • Faculty of Medicine (AMC-UvA)
Document type Article
Language English
Published at
https://doi.org/10.1086/373938 (Final published version)
Downloads
141514y.pdf (Final published version)
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