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

Maria Francesca Di FeoVictoria LillbackManu JokelaMeriel McEntagartTessa HomfrayElisa GiorgioGuido C Casalis CavalchiniAlfredo BruscoMaria IasconeLuigina SpacciniPatrizia D'OriaMarco Savarese Bjarne Udd

Published in: Journal of medical genetics (2023)

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.

Keyphrases

pregnant women
healthcare
bone mineral density
heart failure
skeletal muscle
early onset
genome wide
copy number
atrial fibrillation
smoking cessation
soft tissue
bone loss
gene expression
hiv testing
body composition
human immunodeficiency virus