Singleton-Merten Syndrome Latest Advances

Aortoiliac and superior mesenteric artery narrowing and calcification in Singleton Merten syndrome.

Journal: Radiology case reports

Published: September 09, 2025

Overlapping Aicardi-Goutières and Singleton-Merten syndromes with a heterozygous gain-of-function mutation in IFIH1 mimicking juvenile idiopathic arthritis.

Journal: Immunological medicine

Published: March 21, 2025

Generation of iPSCs line from patient with Singleton-Merten syndrome.

Journal: Human cell

Published: January 21, 2025

Tofacitinib treatment for psoriatic skin lesions associated with Aicardi-Goutières syndrome 7/Singleton-Merten syndrome 1.

Journal: Orphanet journal of rare diseases

Published: November 04, 2024

Glaucoma in a patient with Singleton-Merten syndrome.

Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus

Published: June 18, 2023

Early-Age Manifestation of Singleton Merten Syndrome With Systemic Lupus Erythematosus Features: A Case Report.

Journal: Cureus

Published: May 23, 2022

Precision treatment of Singleton Merten syndrome with ruxolitinib: a case report.

Journal: Pediatric rheumatology online journal

Published: January 31, 2022

Computational Insights into the Structural Dynamics of MDA5 Variants Associated with Aicardi-Goutières Syndrome and Singleton-Merten Syndrome.

Journal: Biomolecules

Published: July 14, 2021

A novel pathogenic variant p.Asp797Val in IFIH1 in a Japanese boy with overlapping Singleton-Merten syndrome and Aicardi-Goutières syndrome.

Journal: American journal of medical genetics. Part A

Published: June 19, 2021

Singleton-Merten syndrome: A rare cause of femoral head necrosis.

Journal: American journal of medical genetics. Part A

Published: March 11, 2021

Hereditary Disorders of Cardiovascular Calcification.

Journal: Arteriosclerosis, thrombosis, and vascular biology

Published: November 12, 2020

RNA Editing in Interferonopathies.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: July 31, 2020