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Read the Recommendations for the Conduct, Reporting, Editing, and Publication of Scholarly work in Medical Journals.
The published medical research literature is a global public good. Medical journal editors have a social responsibility to promote global health by publishing, whenever possible, research that furthers health worldwide.
SINDROMUL BARDET-BIEDL – PREZENTARE DE CAZ
Sorin Ioan Iurian, Heleen Arts, Han Brunner and Dana Fintina
REZUMAT
Sindromul Bardet-Biedl (transmitere autozomal-recesivă) este caracterizat prin obezitate, degenerescenţă retiniană, polidactilie şi retard mental. Autorii prezintă demersul diagnostic la un sugar cu paratrofie, polidactilie şi hipogenitalism.
Cuvinte cheie: sindrom Bardet-Biedl, paratrofie, polidactilie