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Eight isolated cases of KBG syndrome: a new hypothesis of study
A M G Davanzo1, G Rosalia, M Biondi
1Centro di Genetica Medica e Centro Regionale Diagnosi e Terapia Bassa Statura, "San Giuseppe Moscati" Hospital - Avellino (Italy).
European Review for Medical and Pharmacological Sciences
|April 27, 2005
Abstract:
We report on eight cases of patients affected by KBG syndrome (KBG stands for the initials of the affected patients in the original report), a rare genetic disease, that we find only in 40 cases mentioned in the scientific literature. In this work we present the minimum diagnostic criteria of diagnosis due to identify the syndrome and a hypothesis of study for the research of the involved factors.
