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Expanding the clinical phenotype of the ultra‐rare Skraban‐..:
Pavinato, Lisa
;
Trajkova, Slavica
;
Grosso, Enrico
...
American Journal of Medical Genetics Part A. 185 (2021) 6 - p. 1712-1720 , 2021
Link:
https://doi.org/10.1002/ajmg.a.62157
RT Journal T1 <Title>Expanding the clinical phenotype of the ultra‐rare Skraban‐Deardorff syndrome: Two novel individuals with WDR26 loss‐of‐function variants and a literature review</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.62157&Exemplar=1&LAN=DE A1 Pavinato, Lisa A1 Trajkova, Slavica A1 Grosso, Enrico A1 Giorgio, Elisa A1 Bruselles, Alessandro A1 Radio, Francesca Clementina A1 Pippucci, Tommaso A1 Dimartino, Paola A1 Tartaglia, Marco A1 Petlichkovski, Aleksandar A1 De Rubeis, Silvia A1 Buxbaum, Joseph A1 Ferrero, Giovanni Battista A1 Keller, Roberto A1 Brusco, Alfredo PB Wiley YR 2021 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 185 IS 6 SP 1712 OP 1720 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.62157 DO https://doi.org/10.1002/ajmg.a.62157 SF ELIB - SuUB Bremen
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