The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum
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DOI: 10.1136/jmg-2022-109018
Abstract: Background Titin truncating variants (TTNtvs) have been associated with several forms of myopathies and/or cardiomyopathies. In homozygosity or in compound heterozygosity, they cause a wide spectrum of recessive phenotypes with a congenital or childhood onset.… read more here.
Keywords: titin; severe end; bone heart; titinopathies spectrum ... See more keywords