Holt-Oram Syndrome Latest Advances

Atypical Holt-Oram syndrome: Early-onset sick sinus syndrome in a Japanese family with a novel TBX5 mutation, Q469.

Journal: Journal of cardiology cases

Published: December 25, 2024

Rare T-box variants in adult pulmonary arterial hypertension with congenital heart disease.

Journal: Journal of applied genetics

Published: November 14, 2024

Single-nuclei transcriptomics reveals TBX5-dependent targets in a patient with Holt-Oram syndrome.

Journal: The Journal of clinical investigation

Published: November 14, 2024

Challenges in Identifying the Cause of Fetal Sinus Bradycardia: Coexistence of Maternal Anti-SSA Antibodies and Holt-Oram Syndrome Due to a Novel TBX5 Variant.

Journal: Prenatal diagnosis

Published: September 24, 2024

Holt-Oram Syndrome With Atrial Septal Defect.

Journal: Cureus

Published: July 17, 2024

A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.

Journal: Genes & genomics

Published: July 08, 2024

When the heart and hands tell a story: an intriguing case of Holt-Oram syndrome.

Journal: The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology

Published: June 21, 2024

Holt-Oram Syndrome with Pulmonary Involvement-A Valuable Algorithm to Follow.

Journal: The Indian journal of radiology & imaging

Published: March 29, 2024

Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 20, 2024