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pro vyhledávání: '"Roque Tébar-Gil"'
Autor:
Javier Suela, Roque Tébar-Gil, Alberto Vidal-Company, María Luisa Martínez-Fernández, M C Carrascosa-Romero, Alexandra MacDonald, María Luisa Martínez-Frías, J M Pardal-Fernandez, Eva Bermejo-Sánchez
Publikováno v:
American Journal of Medical Genetics Part A. 161:2281-2290
We present a girl with the characteristic clinical picture associated with Marden-Walker syndrome (MWS; OMIM 248700), including mask-like face with blepharophimosis, joint contractures, intellectual disability, a multicystic dysplastic kidney and cer