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Restricted accessCase reportFirst published September, 2013

Bilateral Retinal Vasculopathy Associated with Autosomal Dominant Dyskeratosis Congenita

Sara Vaz-Pereira, Patricio A. Pacheco, Shreyans Gandhi [...]

European Journal of Ophthalmology

Restricted accessResearch articleFirst published April, 2012

Lack of Mutations of the Telomerase RNA Component in Familial Papillary Thyroid Cancer with Short Telomeres

Silvia Cantara, Serena Capuano, Marco Capezzone [...]

Thyroid®

Open accessCase reportFirst published 2025

Hemophagocytic lymphohistiocytosis as the initial manifestation of bone marrow failure in a child with a TERC variant telomere biology disorder

Daniel Medina-Neira, Giancarlo Alvarado-Gamarra, Brenda Huamaní-Condori [...]

Therapeutic Advances in Rare Disease

Restricted accessCase reportFirst published May, 2025

Adult-Onset Presentations of Retinopathy Associated With Short Telomere Syndromes

Jacob Light, Kristen E. Schratz, Onnisa Nanegrungsunk [...]

Journal of VitreoRetinal Diseases

Search results

Articles (4)

Journals (0)

1-4 of 4 results for TERC mutation

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Restricted accessCase reportFirst published September, 2013

Bilateral Retinal Vasculopathy Associated with Autosomal Dominant Dyskeratosis Congenita

Sara Vaz-Pereira, Patricio A. Pacheco, Shreyans Gandhi [...]

European Journal of Ophthalmology

Restricted accessResearch articleFirst published April, 2012

Lack of Mutations of the Telomerase RNA Component in Familial Papillary Thyroid Cancer with Short Telomeres

Silvia Cantara, Serena Capuano, Marco Capezzone [...]

Thyroid®

Open accessCase reportFirst published 2025

Hemophagocytic lymphohistiocytosis as the initial manifestation of bone marrow failure in a child with a TERC variant telomere biology disorder

Daniel Medina-Neira, Giancarlo Alvarado-Gamarra, Brenda Huamaní-Condori [...]

Therapeutic Advances in Rare Disease

Restricted accessCase reportFirst published May, 2025

Adult-Onset Presentations of Retinopathy Associated With Short Telomere Syndromes

Jacob Light, Kristen E. Schratz, Onnisa Nanegrungsunk [...]

Journal of VitreoRetinal Diseases