SMITH-LEMLI-OPITZ SYNDROME:
BOSNIAN AND HERZEGOVINIAN EXPERIENCE
Begic N1,*, Begic Z1, Begic E2,3
*Corresponding Author: Nedim Begic, M.D., M.A., Department of Cardiology, Paediatric Clinic,
Clinical Centre University of Sarajevo, Patriotske Lige 81, Sarajevo, Bosnia and Herzegovina. E-mail:
nedim_begic91@hot mail. com
page: 99
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REFERENCES
1. Bianconi SE, Cross JL, Wassif CA, Porter FD. Pathogenesis,
epidemiology, diagnosis and clinical aspects
of Smith-Lemli-Opitz syndrome. Expert Opin Orphan
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2. Witsch-Baumgartner M, Löffler J, Utermann G. Mutations
in the human DHCR7 gene. Hum Mutat. 2001;
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3. DeBarber AE, Eroglu Y, Merkens LS, Pappu AS,
Steiner RD. Smith-Lemli-Opitz syndrome. Expert
Rev Mol Med. 2011; 13: e24.
4. Svoboda MD, Christie JM, Eroglu Y, Freeman KA,
Steiner RD. Treatment of Smith-Lemli-Opitz syndrome
and other sterol disorders. Am J Med Genet
C Semin Med Genet. 2012; 160C(4): 285-294.
5. Waterham HR, Hennekam RCM. Mutational spectum
of Smith-Lemli-Opitz syndrome. Am J Med Genet C
Semin Med Genet. 2012; 160C(4): 263-284.
6. Ballout RA, Bianconi S, Livinski A, Fu Y-P, Remaley
AT, Porter FD. Statins for Smith-Lemli-Opitz syndrome.
Cochrane Libr. 2020; 2020(1): CD013521.
7. Ertugrul G, Yankol Y, Mecit N, Kirimlioglu H,
Kanmaz T, Acarli K, et al. Liver transplant and improvements
in cholesterol biosynthesis defects: A
case report of Smith-Lemli-Opitz syndrome. Exp Clin
Transplant. 2019 Jan 21. doi: 10.6002/ect.2018.0131.
Online ahead of print.
8. Eroglu Y, Nguyen-Driver M, Steiner RD, Merkens L,
Merkens M, Roullet J-B, et al. Normal IQ is possible
in Smith-Lemli-Opitz syndrome. Am J Med Genet A.
2017; 173(8): 2097-2100.
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