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Milder presentation of TELO2-related syndrome in two sister..:
Ciaccio, Claudia
;
Duga, Valentina
;
Pantaleoni, Chiara
...
European Journal of Medical Genetics. 64 (2021) 1 - p. 104116 , 2021
Link:
https://doi.org/10.1016/j.ejmg.2020.104116
RT Journal T1
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ejmg.2020.104116&Exemplar=1&LAN=DE A1 Ciaccio, Claudia A1 Duga, Valentina A1 Pantaleoni, Chiara A1 Esposito, Silvia A1 Moroni, Isabella A1 Pinelli, Michele A1 Castello, Raffaele A1 Nigro, Vincenzo A1 Chiapparini, Luisa A1 D'Arrigo, Stefano A1 Torella, Annalaura A1 Cappuccio, Gerarda A1 Musacchia, Francesco A1 Mutarelli, Margherita A1 Carrella, Diego A1 Vitiello, Giuseppina A1 Parenti, Giancarlo A1 Capra, Valeria A1 Leuzzi, Vincenzo A1 Selicorni, Angelo A1 Maitz, Silvia A1 Brunetti-Pierri, Nicola A1 Banfi, Sandro A1 Zollino, Marcella A1 Montomoli, Martino A1 Milani, Donatella A1 Romano, Corrado A1 Tummolo, Albina A1 De Brasi, Daniele A1 Coppola, Antonietta PB Elsevier BV YR 2021 SN 1769-7212 JF European Journal of Medical Genetics VO 64 IS 1 SP 104116 LK http://dx.doi.org/https://doi.org/10.1016/j.ejmg.2020.104116 DO https://doi.org/10.1016/j.ejmg.2020.104116 SF ELIB - SuUB Bremen
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