@misc{10818/61900,
year = {2024},
url = {http://hdl.handle.net/10818/61900},
abstract = {Dyskeratosis congenita (DC) is a telomeropathy presenting diagnostic and therapeutic challenges across multiple specialties; yet, subtle dermatological signs enable early detection, altering patient prognosis. A specific DC genetic sequencing was performed according to the clinical criteria of our patient in study. Subsequently, cross-checked information in the main genetic databases was carried out. Additionally, an extensive review of the literature was made to organize the main dermatological aspects in DC. We report a novel variant of DC. Additionally, we share 10 useful and practical messages for dermatologists and any specialist caring for this group of patients. © The Author(s) 2024.},
publisher = {Archives of Dermatological Research},
title = {Dyskeratosis congenita associated with a novel missense variant in TERT: Approach for the dermatologists},
doi = {10.1007/s00403-024-03050-9},
author = {Neri Morales C and Cuestas D and Ángel F and Ilelaty Urbano F.A and Rodríguez P.A and Brito J.A and Téllez D and Fernández I and Celis Regalado L.},
}