Gene: [07q321/SLOS] Smith-Lemli-Opitz syndrome, type 2?;
|
PAT |
[1] Children with the Smith-Lemli-Opitz syndrome, a frequent inborn
disorder
of sterol metabolism, have elevated serum levels and low serum
cholesterol levels. So delta-7-sterol reductase is suspected to be
defective in this syndrome (Shefer-1995; see GEM:11q13/DHCR7).
[2] Another locus associated with Smith-Lemli-Opitz syndrome was found: GEM:11q13/DHCR7." |
|
REF |
ABR,MAP "Alley TL &: Am J Med Genet, 68, N3, 279-281, 1997 LIN,LOC "Alley TL &: AJHG, 56, 1411-1416, 1995 PND "Dallaire L &: Prenatal Diag, 15, N9, 855-858, 1995 PND "Hyett JA &: Am J Med Genet, 58, N4, 374-376, 1995 FUN,PAT "Irons M &: Lancet, 341, N8857, 1414, 1993 FUN,PAT "Ness GC &: Am J Med Genet, 68, N3, 294-299, 1997 REV,BIB "Opitz JM &: Am J Med Genet, 50, N4, 339-343, 1994 FUN,PAT "Salen G &: J Lipid Res, 37, N6, 1169-1180, 1996 MEB,PAT "Shefer S &: J Clin Invest, 96, N4, 1779-1785, 1995 LIN,LOC "Wallace M &: Am J Med Genet, 50, 368-374, 1994 |
|
KEY |
devd, ster |
|
CLA |
unknown, basic |
|
LOC |
07 q32.1 |
|
MIM |
MIM: 270400 |
