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1 Ergebnisse
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SOX2: Not always eye malformations. Severe genital but no m..:
Errichiello, Edoardo
;
Gorgone, Cristina
;
Giuliano, Loretta
...
European Journal of Medical Genetics. 61 (2018) 6 - p. 335-340 , 2018
Link:
https://doi.org/10.1016/j.ejmg.2018.01.011
RT Journal T1
SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ejmg.2018.01.011&Exemplar=1&LAN=DE A1 Errichiello, Edoardo A1 Gorgone, Cristina A1 Giuliano, Loretta A1 Iadarola, Barbara A1 Cosentino, Emanuela A1 Rossato, Marzia A1 Kurtas, Nehir Edibe A1 Delledonne, Massimo A1 Mattina, Teresa A1 Zuffardi, Orsetta PB Elsevier BV YR 2018 SN 1769-7212 JF European Journal of Medical Genetics VO 61 IS 6 SP 335 OP 340 LK http://dx.doi.org/https://doi.org/10.1016/j.ejmg.2018.01.011 DO https://doi.org/10.1016/j.ejmg.2018.01.011 SF ELIB - SuUB Bremen
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