Lowe syndrome identified in the offspring of an oocyte donor who was an unknown carrier of a de novo mutation: a case report and review of the literature

por Tatsi, P., Papanikolaou, G. E., Chartomatsidou, T., Papoulidis, I., Athanasiadis, A., Najdecki, R., Timotheou, E.
Publicado 2019

Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay

por Fryssira, H., Tsoutsou, E., Psoni, S., Amenta, S., Liehr, T., Anastasakis, E., Skentou, Ch, Ntouflia, A., Papoulidis, I., Manolakos, E., Chaliasos, N.
Publicado 2016