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Smith Lemli Opitz syndrome
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Smith Lemli Opitz syndrome2559Smith Lemli Opitz Syndrom

DHCR7

Smith Lemli Opitz syndrome

2007  
1
Smith-Lemli-Opitz syndrome and autism spectrum disorder.
[17974928] Am J Psychiatry 164(11): 1655-61 (2007)
2003  
2
Smith-Lemli-Opitz syndrome and the DHCR7 gene.
[12914579] Ann Hum Genet 67(Pt 3): 269-80 (2003)
1998  
3
RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis.
[9683618] Am J Hum Genet 63(2): 322-6 (1998)
2008  
4
Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.
[18285838] Eur J Hum Genet 16(5): 535-41 (2008)
1996  
5
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.
[8808751] J Lipid Res 37(6): 1169-80 (1996)
2000  
6
The Smith-Lemli-Opitz syndrome.
[10807690] J Med Genet 37(5): 321-35 (2000)
1999  
7
Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardation.
[10439827] CMAJ 161(2): 165-70 (1999)
2010  
8
Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism.
[20104611] Am J Med Genet C Semin Med Genet 154C(1): 142-5 (2010)
2010  
9
Retinal degeneration in a rat model of Smith-Lemli-Opitz Syndrome: thinking beyond cholesterol deficiency.
[20238050] Adv Exp Med Biol 664(-): 481-9 (2010)
2005  
10
Recent insights into the Smith-Lemli-Opitz syndrome.
[16207203] Clin Genet 68(5): 383-91 (2005)
2009  
11
Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health.
[19452638] Genet Med 11(5): 359-64 (2009)

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