TY - GEN 
AU - Neri Morales C
AU - Cuestas D
AU - Ángel F
AU - Ilelaty Urbano F.A
AU - Rodríguez P.A
AU - Brito J.A
AU - Téllez D
AU - Fernández I
AU - Celis Regalado L.
PY - 2024
SN - 3403696
UR - http://hdl.handle.net/10818/61900
AB - 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...
LA - eng
PB - Archives of Dermatological Research
KW - Cutaneous manifestations
KW - Dyskeratosis congenita
KW - TERT
TI - Dyskeratosis congenita associated with a novel missense variant in TERT: Approach for the dermatologists
DO - 10.1007/s00403-024-03050-9
ER -