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National Awards “Science and Research”
NEW! RJP has announced the annually National Award for "Science and Research" for the best scientific articles published throughout the year in the official journal.
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BARDET-BIEDL SYNDROME – CASE PRESENTATION
Sorin Ioan Iurian, Heleen Arts, Han Brunner and Dana Fintina
ABSTRACT
Bardet-Biedl syndrome (autosomal-recessive inheritance) is characterized by obesity, retinal dystrophy, polydactyly and mental retardation. The authors emphasize the necessary steps in order to establish the diagnosis for an infant with overweight, polydactyly and hypogenitalism.
Keywords: Bardet-Biedl syndrome, obesity (overweight), polydactyly