BARDET-BIEDL SYNDROME - CASE PRESENTATION

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.

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Egile Nagusiak: Sorin Ioan Iurian (Egilea), Heleen Arts (Egilea), Han Brunner (Egilea), Dana Fintina (Egilea)
Formatua: Liburua
Argitaratua: Amaltea Medical Publishing House, 2015-09-01T00:00:00Z.
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