Smith-Lemli-Opitz Syndrome Latest Advances

Find the Latest Research About Smith-Lemli-Opitz Syndrome

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 670 publications

Sterol biosynthesis, brain development, and disease.

Sterol biosynthesis, brain development, and disease.

Journal: The Journal of clinical investigation
Published: July 15, 2026

Modeling Inherited Disorders of Post-Lanosterol Cholesterol Biosynthesis: From Animal Models to Patient-Derived Stem Cells.

Modeling Inherited Disorders of Post-Lanosterol Cholesterol Biosynthesis: From Animal Models to Patient-Derived Stem Cells.

Journal: International journal of molecular sciences
Published: July 06, 2026

Lipid ciliology: specialized ciliary membrane lipids in physiology and disease.

Lipid ciliology: specialized ciliary membrane lipids in physiology and disease.

Journal: Frontiers in cell and developmental biology
Published: May 28, 2026

Loss of 7-Dehydrocholesterol Reductase mediated cholesterol biosynthesis activates IRF3 and inhibits control of Mycobacterium marinum infection.

Loss of 7-Dehydrocholesterol Reductase mediated cholesterol biosynthesis activates IRF3 and inhibits control of Mycobacterium marinum infection.

Journal: bioRxiv : the preprint server for biology
Published: May 25, 2026

Smith-Lemli-Opitz Syndrome: From Cholesterol Deficiency to Sterol-Dependent Signaling Dysregulation.

Smith-Lemli-Opitz Syndrome: From Cholesterol Deficiency to Sterol-Dependent Signaling Dysregulation.

Journal: The Journal of steroid biochemistry and molecular biology
Published: May 08, 2026

Prevalence of Smith-Lemli-Opitz Syndrome Carriers and the Spectrum of DHCR7 Pathogenic Variants in Representative Czech and Hungarian Population Cohorts.

Prevalence of Smith-Lemli-Opitz Syndrome Carriers and the Spectrum of DHCR7 Pathogenic Variants in Representative Czech and Hungarian Population Cohorts.

Journal: Genes
Published: December 19, 2025

Reproductive Carrier Screening Detects Early Actionable Metabolic Conditions.

Reproductive Carrier Screening Detects Early Actionable Metabolic Conditions.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 12, 2025

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

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

Journal: Journal of clinical medicine
Published: October 16, 2025

Pathophysiological significance of cholesterol in ciliopathies.

Pathophysiological significance of cholesterol in ciliopathies.

Journal: Fujita medical journal
Published: September 25, 2025

Unveiling a New Link: Cholesterol Deficiency in Smith-Lemli-Opitz and Niemann-Pick C as a Driver of Ciliopathies.

Unveiling a New Link: Cholesterol Deficiency in Smith-Lemli-Opitz and Niemann-Pick C as a Driver of Ciliopathies.

Journal: American journal of medical genetics. Part A
Published: September 23, 2025

A novel pathogenic synonymous DHCR7 variant unveiled by aberrant splicing in Smith-Lemli-Opitz syndrome.

A novel pathogenic synonymous DHCR7 variant unveiled by aberrant splicing in Smith-Lemli-Opitz syndrome.

Journal: Human genetics
Published: September 17, 2025

Chondrodysplasia Punctata: A Rare Entity Identified Incidentally.

Chondrodysplasia Punctata: A Rare Entity Identified Incidentally.

Journal: Cureus
Published: August 24, 2025
Showing 1-12 of 670

Last Updated: 09/26/2026