Article
X-Linked dominant disorders of cholesterol biosynthesis in man and mouse.
Biochimica et biophysica acta - 15 Dec 2000
Herman G E
Abstract excerpt
The X-linked dominant male-lethal mouse mutations tattered and bare patches are homologous to human X-linked dominant chondrodysplasia punctata and CHILD syndrome, rare human skeletal dysplasias. These disorders also affect the skin and can cause cataracts and microphthalmia in surviving, affected heterozygous females. They have recently been shown to result from mutations in genes encoding enzymes involved in...
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