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Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic..:
Santos-Simarro, Fernando
;
Pacio, Marta
;
Cueto-González, Anna María
...
European Journal of Medical Genetics. 64 (2021) 11 - p. 104338 , 2021
Link:
https://doi.org/10.1016/j.ejmg.2021.104338
RT Journal T1
Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ejmg.2021.104338&Exemplar=1&LAN=DE A1 Santos-Simarro, Fernando A1 Pacio, Marta A1 Cueto-González, Anna María A1 Mansilla, Elena A1 Valenzuela-Palafoll, María Irene A1 López-Grondona, Fermina A1 Lledín, María Dolores A1 Schuffelmann, Cristina A1 del Pozo, Ángela A1 Solis, Mario A1 Vallcorba, Patricia A1 Lapunzina, Pablo A1 Menéndez Suso, Juan José A1 Siccha, Sofia M. A1 Montejo, Juan Manuel A1 Mena, Rocío A1 Jiménez-Rodríguez, Carmen A1 García-Miñaúr, Sixto A1 Palomares-Bralo, María PB Elsevier BV YR 2021 SN 1769-7212 JF European Journal of Medical Genetics VO 64 IS 11 SP 104338 LK http://dx.doi.org/https://doi.org/10.1016/j.ejmg.2021.104338 DO https://doi.org/10.1016/j.ejmg.2021.104338 SF ELIB - SuUB Bremen
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