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First description of a patient with Vici syndrome due to a ..:
Ehmke, Nadja
;
Parvaneh, Nima
;
Krawitz, Peter
...
American Journal of Medical Genetics Part A. 164 (2014) 12 - p. 3170-3175 , 2014
Link:
https://doi.org/10.1002/ajmg.a.36772
RT Journal T1
First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.36772&Exemplar=1&LAN=DE A1 Ehmke, Nadja A1 Parvaneh, Nima A1 Krawitz, Peter A1 Ashrafi, Mahmoud‐Reza A1 Karimi, Parviz A1 Mehdizadeh, Mehrzad A1 Krüger, Ulrike A1 Hecht, Jochen A1 Mundlos, Stefan A1 Robinson, Peter N. PB Wiley YR 2014 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 164 IS 12 SP 3170 OP 3175 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.36772 DO https://doi.org/10.1002/ajmg.a.36772 SF ELIB - SuUB Bremen
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