Repositorio Institucional de la Universidad de Oviedo

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Novel 14q32.2 paternal deletion encompassing the whole dlk1 gene associated with temple syndrome

Baena, N.; Monk, D.; Aguilera, C.; Fernández Fraga, Mario; Fernández Fernández, Agustín; Gabau, E.; Corripio, R.; Capdevila, N.; Trujillo, J. P.; Ruiz A.; Guitart, M. (2024)
Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

Soria Valles, Clara; Carrero Muñiz, Dido; Gabau, E.; Velasco Cotarelo, María Gloria; Quesada Fernández, Víctor; Bárcena Fernández, Clea; Moens, M.; Fieggen, K.; Möhrcken, S.; Owens, M.; Álvarez Puente, Diana; Asensio, O.; Loeys, B.; Pérez, Ana; Benoit, V.; Wuyts, W.; Lévy, Nicolas; Hennekam, R. C.; Sandre-Giovannoli, Annachiara de; López Otín, Carlos (2016)