The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum

Conclusion We suggest TTN to be carefully evaluated in any diagnostic process involving patients with these prenatal signs. This step will be essential to improve diagnostic performance, expand our knowledge and optimise prenatal genetic counselling.

http://jmg.bmj.com/cgi/content/short/60/9/866?rss=1

Source: Journal of Medical Genetics - August 21, 2023 Category: Genetics & Stem Cells Authors: Di Feo, M. F., Lillback, V., Jokela, M., McEntagart, M., Homfray, T., Giorgio, E., Casalis Cavalchini, G. C., Brusco, A., Iascone, M., Spaccini, L., D'Oria, P., Savarese, M., Udd, B. Tags: Genotype-phenotype correlations Source Type: research