Transient elastography in adult patients with cryptic dyskeratosis congenita reveals subclinical liver fibrosis: a retrospective analysis of the Aachen telomere biology disease registry.
Mareike TomettenMartin KirschnerSusanne IsfortMarie-Luise BerresTim H BrümmendorfFabian BeierPublished in: Orphanet journal of rare diseases (2021)
Subclinical chronic liver involvement is frequent in patients with adult-onset TBD. TE could have a valuable role in the routine work-up of patients with telomere disorders including DKC for early detection of patients at risk for liver function impairment.