Associated Papers
A novel mutation of the human 7-dehydrocholesterol reductase gene reduces enzyme activity in patients with holoprosencephaly.
Shim YH et al.
Biochemical and Biophysical Research Communications, 2004
RSH (so-called Smith-Lemli-Opitz) syndrome.
Opitz JM
Current Opinion in Pediatrics, 1999
Molecular genetics of the Smith-Lemli-Opitz syndrome and postsqualene sterol metabolism.
Fitzky BU et al.
Current Opinion in Lipidology, 1999
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