Acrorenal Mandibular Syndrome Latest Advances
Find the Latest Research About Acrorenal Mandibular Syndrome
Last Updated: 06/30/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 148 publications
Drosophila Myc ameliorates defects in mitochondrial homeostasis and muscle maturation caused by Metaxin-2 deficiency.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: June 15, 2026
P18 ZMPSTE24 variant with the lethal phenotype of restrictive dermopathy.
Journal: The British journal of dermatology
Published: December 18, 2025
A Case of Restrictive Dermopathy With Atypical Cardiac Anomalies and a Novel ZMPSTE24 Variant.
Journal: American journal of medical genetics. Part A
Published: November 21, 2025
Mtx2 requirement for craniofacial morphogenesis with implications for mandibuloacral dysplasia.
Journal: Biochemical and biophysical research communications
Published: September 04, 2025
Severe cardiac valvular calcification in two Chinese brothers with mandibuloacral dysplasia type A: a case report.
Journal: Frontiers in cardiovascular medicine
Published: July 02, 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
Founder Pathogenic Variant in LMNA with 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
Last Updated: 06/30/2026