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Atypical phenotype of a patient with Bardet–Biedl syndrome type 4

BACKGROUND: Bardet–Biedl syndrome (BBS) is a multisystemic disorder characterized by rod–cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities. There is a large clinical an...

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Detalles Bibliográficos
Autores principales:	Sloboda, Natacha, Lambert, Laetitia, Ciorna, Viorica, Bruel, Ange‐Line, Tran Mau‐Them, Frédéric, Gomola, Vladimir, Lemelle, Jean‐Louis, Klein, Olivier, Camoin‐Schweitzer, Marie‐Christine, Magnavacca, Marie, Legagneur, Carole, Ezsto, Marie‐Laure, Bonnet, Céline, Philippe, Christophe, Leheup, Bruno
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Clinical Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034675/ https://www.ncbi.nlm.nih.gov/pubmed/35318824 http://dx.doi.org/10.1002/mgg3.1869

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