Genetic & Genomic MedicineJournal of Medical GeneticsPeer-reviewed
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart, and muscle anomalies characterize the severe end of titinopathies spectrum
Maria Francesca Di Feo, Victoria Lillback, Manu E. Jokela…·Bjarne Udd
This study identifies severe developmental anomalies and high miscarriage rates in patients with biallelic titin truncating variants, highlighting the need for TTN evaluation in congenital musculoskeletal and cardiac conditions.
15 citations