Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS]
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg2012255.pdf
Reference18 articles.
1. Tint GS, Irons M, Elias ER et al: Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med 1994; 330: 107–113.
2. Witsch-Baumgartner M, Ciara E, Löffler J et al: Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations. Eur J Hum Genet 2001a; 9: 45–50.
3. Smith DW, Lemli L, Opitz JM : A newly recognized syndrome of multiple congenital anomalies. J Pediatr 1964; 64: 210–217.
4. Witsch-Baumgartner M, Loeffler J, Utermann G : Mutations in the human DHCR7 gene. Hum Mutat 2001b; 17: 172–182.
5. Witsch-Baumgartner M, Clayton P, Clusellas N et al: Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy. Hum Mutat 2005; 25: 412.
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1. Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review;The Pharmacogenomics Journal;2016-07-12
2. LC–MS/MS-based quantification of cholesterol and related metabolites in dried blood for the screening of inborn errors of sterol metabolism;Analytical and Bioanalytical Chemistry;2015-05-12
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