Research & Literature

Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome.

Blassberg R, Macrae JI, Briscoe J, Jacob J

Human molecular genetics 2016; (25(4)):693-705 doi:10.1093/hmg/ddv507.

The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.

Tucci A, Ronzoni L, Arduino C, et al.

BMC medical genetics 2016; (17()):22 doi:10.1186/s12881-016-0287-1.

Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update.

Thurm A, Tierney E, Farmer C, et al.

Journal of neurodevelopmental disorders 2016; (8()):12 doi:10.1186/s11689-016-9145-x.

Inhibitors of 7-Dehydrocholesterol Reductase: Screening of a Collection of Pharmacologically Active Compounds in Neuro2a Cells.

Kim HY, Korade Z, Tallman KA, et al.

Chemical research in toxicology 2016; (29(5)):892-900 doi:10.1021/acs.chemrestox.6b00054.

Endogenous B-ring oxysterols inhibit the Hedgehog component Smoothened in a manner distinct from cyclopamine or side-chain oxysterols.

Sever N, Mann RK, Xu L, et al.

Proceedings of the National Academy of Sciences of the United States of America 2016; (113(21)) doi:10.1073/pnas.1604984113.

A Pilot Study of the Association of Markers of Cholesterol Synthesis with Disturbed Sleep in Smith-Lemli-Opitz Syndrome.

Freeman KA, Olufs E, Tudor M, et al.

Journal of developmental and behavioral pediatrics : JDBP 2016; (37(5)):424-30 doi:10.1097/DBP.0000000000000317.

A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.

Wassif CA, Kratz L, Sparks SE, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2017; (19(3)):297-305 doi:10.1038/gim.2016.102.

Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.

Lazarin GA, Haque IS, Evans EA, Goldberg JD

Prenatal diagnosis 2017; (37(4)):350-355 doi:10.1002/pd.5018.

Normal IQ is possible in Smith-Lemli-Opitz syndrome.

Eroglu Y, Nguyen-Driver M, Steiner RD, et al.

American journal of medical genetics. Part A 2017; (173(8)):2097-2100 doi:10.1002/ajmg.a.38125.

Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus.

Travessa A, Dias P, Rocha P, Sousa AB

Taiwanese journal of obstetrics & gynecology 2017; (56(4)):541-544 doi:10.1016/j.tjog.2017.01.012.

Smith-Lemli-Opitz syndrome: clinical and biochemical correlates.

Donoghue SE, Pitt JJ, Boneh A, White SM

Journal of pediatric endocrinology & metabolism : JPEM 2018; (31(4)):451-459 doi:10.1515/jpem-2017-0501.

Smith-Lemli-Opitz syndrome presenting as acute adrenal crisis in a child: a case report.

Jayamanne C, Sandamal S, Jayasundara K, et al.

Journal of medical case reports 2018; (12(1)):217 doi:10.1186/s13256-018-1738-4.

Lipid-derived and other oxidative modifications of retinal proteins in a rat model of Smith-Lemli-Opitz syndrome.

Kapphahn RJ, Richards MJ, Ferrington DA, Fliesler SJ

Experimental eye research 2019; (178()):247-254 doi:10.1016/j.exer.2018.08.006.

Long-Term Cholic Acid Treatment in a Patient with Zellweger Spectrum Disorder.

Heubi JE, Bishop WP

Case reports in gastroenterology 2018; (12(3)):661-670 doi:10.1159/000494555.

The Smith-Lemli-Opitz syndrome and dentofacial anomalies diagnostic: Case reports and literature review.

Rojare C, Opdenakker Y, Laborde A, et al.

International orthodontics 2019; (17(2)):375-383 doi:10.1016/j.ortho.2019.03.020.

Smith-Lemli-Opitz syndrome - Fetal phenotypes with special reference to the syndrome-specific internal malformation pattern.

Schoner K, Witsch-Baumgartner M, Behunova J, et al.

Birth defects research 2020; (112(2)):175-185 doi:10.1002/bdr2.1620.

Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith-Lemli-Opitz syndrome.

Gana S, Plumari M, Rossi E, et al.

American journal of medical genetics. Part A 2020; (182(11)):2722-2726 doi:10.1002/ajmg.a.61832.

[Clinical and genetic analysis of a Chinese pedigree affected with Smith-Lemli-Opitz syndrome].

Gao C, Duan J, Zhang P, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020; (37(11)):1272-1275 doi:10.3760/cma.j.cn511374-20190929-00502.

Familial DHCR7 genotype presenting as a very mild form of Smith-Lemli-Opitz syndrome and lethal holoprosencephaly.

Temple SEL, Sachdev R, Ellaway C

JIMD reports 2020; (56(1)):3-8 doi:10.1002/jmd2.12155.

Prescription Medications Alter Neuronal and Glial Cholesterol Synthesis.

Tallman KA, Allen LB, Klingelsmith KB, et al.

ACS chemical neuroscience 2021; (12(4)):735-745 doi:10.1021/acschemneuro.0c00765.

Auditory phenotype of Smith-Lemli-Opitz syndrome.

Zalewski CK, Sydlowski SA, King KA, et al.

American journal of medical genetics. Part A 2021; (185(4)):1131-1141 doi:10.1002/ajmg.a.62087.

Sterol Biosynthesis Inhibition in Pregnant Women Taking Prescription Medications.

Genaro-Mattos TC, Klingelsmith KB, Allen LB, et al.

ACS pharmacology & translational science 2021; (4(2)):848-857 doi:10.1021/acsptsci.1c00012.

A Case of Smith-Lemli-Opitz Syndrome Diagnosed with Hypertrophic Pyloric Stenosis.

Eren EE, Bilgin N, Urganci N, Kose G

Sisli Etfal Hastanesi tip bulteni 2021; (55(2)):268-271 doi:10.14744/SEMB.2020.34651.

Biochemical and Clinical Effects of Vitamin E Supplementation in Hungarian Smith-Lemli-Opitz Syndrome Patients.

Koczok K, Horváth L, Korade Z, et al.

Biomolecules 2021; (11(8)) doi:10.3390/biom11081228.

Smith-Lemli-Opitz Syndrome: Bosnian and Herzegovinian Experience.

Begic N, Begic Z, Begic E

Balkan journal of medical genetics : BJMG 2021; (24(1)):99-102 doi:10.2478/bjmg-2021-0002.

A reliable tool for detecting 7-dehydrocholesterol and cholesterol in human plasma and its use in diagnosis of Smith-Lemli-Opitz syndrome.

Luo Y, Liu Z, Zeng Y, et al.

Journal of separation science 2022; (45(5)):1080-1093 doi:10.1002/jssc.202100594.

Temporal changes in the brain lipidome during neurodevelopment of Smith-Lemli-Opitz syndrome mice.

Li A, Hines KM, Ross DH, et al.

The Analyst 2022; (147(8)):1611-1621 doi:10.1039/d2an00137c.

Smith-Lemli-Optiz syndrome: importance of ophthalmology referral and follow-up.

López-Cañizares A, Al-Khersan H, Fernandez MP, et al.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2023; (27(2)):100-102 doi:10.1016/j.jaapos.2022.11.007.

Smith-Lemli-Opitz syndrome: A pathophysiological manifestation of the Bloch hypothesis.

Chattopadhyay A, Sharma A

Frontiers in molecular biosciences 2023; (10()):1120373 doi:10.3389/fmolb.2023.1120373.

Keeping you on your toes: Smith-Lemli-Opitz Syndrome is an easily missed cause of developmental delays.

Coupe S, Hertzog A, Foran C, et al.

Clinical case reports 2023; (11(2)):e6920 doi:10.1002/ccr3.6920.

Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study.

Elias ER, Orth LE, Li A, et al.

Molecular genetics and metabolism reports 2024; (38()):101030 doi:10.1016/j.ymgmr.2023.101030.

Traumatic Self-Inflicted Ventricular Laceration: A Case of Smith-Lemli-Opitz Syndrome in an Adult.

Beuschel JJ, Ng GI, Abaraoha JC, Fortuna RJ

Cureus 2024; (16(2)):e53613 doi:10.7759/cureus.53613.

DHCR7 links cholesterol synthesis with neuronal development and axonal integrity.

Miyazaki S, Shimizu N, Miyahara H, et al.

Biochemical and biophysical research communications 2024; (712-713()):149932 doi:10.1016/j.bbrc.2024.149932.

Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the DHCR7 Gene in a 73-Year-Old Woman: Report of the Oldest Patient.

Yılmaz M, Bebek O, Turkyilmaz A

Molecular syndromology 2024; (15(4)):317-323 doi:10.1159/000536343.

Assessing Postnatal Mortality in Smith-Lemli-Opitz Syndrome.

Selvaraman A, Rahhal S, Bianconi S, et al.

American journal of medical genetics. Part A 2025; (197(2)):e63875 doi:10.1002/ajmg.a.63875.

First documented case of Smith-Lemli-Opitz syndrome in Syria: clinical presentation, diagnosis, and experimental management with simvastatin.

Aladia AH, Hamdan S, Alkheder A

Oxford medical case reports 2024; (2024(11)):omae129 doi:10.1093/omcr/omae129.

Smith-Lemli-Opitz Syndrome: Oral Characteristics and Risk Factors for Caries Development.

Olczak-Kowalczyk D, Witt-Porczyk A, Piekoszewska-Ziętek P, Krajewska-Walasek M

Biomedicines 2025; (13(3)) doi:10.3390/biomedicines13030574.

Smith-Lemli-Opitz syndrome: Clinical, biochemical, and genetic insights with emerging treatment opportunities.

Kritzer A, Dutta R, Pramparo T, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2025; (27(7)):101450 doi:10.1016/j.gim.2025.101450.

The role of cholesterol biosynthesis and metabolism causing medical complexity in patients with Smith-Lemli-Opitz Syndrome (SLOS).

Elias ER

The Journal of steroid biochemistry and molecular biology 2025; (254()):106822 doi:10.1016/j.jsbmb.2025.106822.

Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): real-world patient outcomes.

Ferren E, Hillman PR, Kritzer A, et al.

Orphanet journal of rare diseases 2025; (20(1)):381 doi:10.1186/s13023-025-03914-x.

Exploring Recent Developments in the Manifestation, Diagnosis, and Treatment of Patients with Smith-Lemli-Opitz Syndrome: From Molecular Pathways to Clinical Innovations.

Żukowska A, Król M, Kupnicka P, et al.

International journal of molecular sciences 2025; (26(14)) doi:10.3390/ijms26146672.

Cross-sectional analysis of expressive and receptive language skills in Smith-Lemli-Opitz syndrome (SLOS).

Morris SM, Tierney E

Journal of rare diseases (Berlin, Germany) 2025; (4(1)):56 doi:10.1007/s44162-025-00119-5.

Smith-Lemli-Opitz Syndrome (SLOS)-Case Description and the Impact of Therapeutic Interventions on Psychomotor Development.

Kozera N, Śmigiel R, Rozensztrauch A

Journal of clinical medicine 2025; (14(23)) doi:10.3390/jcm14238569.