Filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 10/31/2025
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 143 publications
Mtx2 requirement for craniofacial morphogenesis with implications for mandibuloacral dysplasia.
Journal: Biochemical and biophysical research communications
Published: September 04, 2025
Founder Pathogenic Variant in LMNA and Its Diverse Phenotypic Manifestations in Mandibuloacral Dysplasia: Insights from a Turkish Cohort.
Journal: Journal of clinical research in pediatric endocrinology
Published: June 03, 2025
Homozygous LMNA c.1579C>T mutation manifesting as mandibuloacral dysplasia type A in a pediatric patient.
Journal: Indian journal of dermatology, venereology and leprology
Published: October 16, 2024
Rare ZMPSTE24 variants increase risk of hypertriglyceridemia and metabolic syndrome.
Journal: European journal of endocrinology
Published: October 09, 2024
Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes.
Journal: International journal of molecular sciences
Published: July 14, 2024
MAM-STAT3-Driven Mitochondrial Ca+2 Upregulation Contributes to Immunosenescence in Type A Mandibuloacral Dysplasia Patients.
Journal: Advanced science (Weinheim, Baden-Wurttemberg, Germany)
Published: July 02, 2024
Navigating Lipodystrophy: Insights from Laminopathies and Beyond.
Journal: International journal of molecular sciences
Published: June 09, 2024
Radiological insights into mandibuloacral dysplasia: A case report.
Journal: Radiology case reports
Published: June 02, 2024
Metaxin-2 tunes mitochondrial transportation and neuronal function in Drosophila.
Journal: Genetics
Published: April 15, 2024
A Case of Mandibuloacral Dysplasia Progeroid Syndrome Presented as In Utero Growth Restriction.
Journal: Journal of medical ultrasound
Published: February 03, 2024
Last Updated: 10/31/2025