@article{ViudesMansóBorrásEnriqueMadridDiagoGarcíaMaruendaJiménezGuzmánTenaVázquezÁlvarezCañadasOlmoGuillamónEdoTenaNovellaMaestreMarínReina+2026+381+387,
url = {https://doi.org/10.1515/jpem-2025-0643},
title = {A novel CEP57 gene mutation in mosaic variegated aneuploidy syndrome 2: case report},
title = {},
author = {Cristina Pellicer Viudes and María Mansó Borrás and Susana Enrique Madrid and Berta Diago García and Armando Carlos Maruenda Jiménez and Paula Guzmán Tena and María Leticia Vázquez Álvarez and Victoria Cañadas Olmo and Dolores Tío Guillamón and María Amparo Edo Tena and Edurne Novella-Maestre and Purificación Marín Reina},
pages = {381--387},
volume = {39},
number = {4},
journal = {Journal of Pediatric Endocrinology and Metabolism},
doi = {doi:10.1515/jpem-2025-0643},
year = {2026},
lastchecked = {2026-05-02}
}