Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3[beta]-hydroxysterol [[DELTA.sup.14]-reductase deficiency due to mutations in the lamin B receptor gene. (Report)

Authors :: Waterham, Hans R.
Koster, Janet
Mooyer, Petra
van Noort, Gerard
Kelley, Richard I.
Wilcox, William R.
Wanders, Ronald J.A.
Hennekam, Raoul C.M.
Oosterwijk, Jan C.
Source :: American Journal of Human Genetics. April, 2003, Vol. 72 Issue 4, p1013, 5 p.
Publication Year :: 2003

Subjects :: Dysplasia -- Research
Dysplasia -- Genetic aspects
Birth defects -- Research
Birth defects -- Genetic aspects
Biological sciences

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