The Spectrum of Hepatic Involvement in Patients With Telomere Disease

Devika Kapuria, Gil Ben‐Yakov, Rebecca Ortolano, Min Ho Cho, Or Kalchiem‐Dekel, Varun Takyar, Shilpa Lingala, Naveen Gara, Michele Tana, Yun Ju Kim, David E. Kleiner, Neal S. Young, Danielle M. Townsley, Christopher Koh, Theo Heller – 21 February 2019 – Loss‐of‐function mutations in genes that encode for components of the telomere repair complex cause accelerated telomere shortening. Hepatic involvement has been recognized as a cause of morbidity in telomere diseases, but very few studies have characterized the nature and extent of liver involvement in affected patients.

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