Article
Atypical phenotype of a patient with Bardet-Biedl syndrome type 4.
Molecular genetics & genomic medicine - 1 May 2022
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
Abstract excerpt
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 and also genetic heterogeneity in BBS. Here, we report a patient with polydactyly, hyperechogenic kidneys increased in...
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