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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| Principais autores: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Amaltea Medical Publishing House
2015-09-01
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| coleção: | Romanian Journal of Pediatrics |
| Assuntos: | |
| Acesso em linha: | https://revistemedicale.amaltea.ro/Romanian_Journal_of_PEDIATRICS/Revista_Romana_de_PEDIATRIE-2015-Nr.3/EN/RJP_2015_3_EN_Art-11.pdf |
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