Atypical phenotype of a patient with Bardet–Biedl syndrome type 4
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DOI: 10.1002/mgg3.1869
Abstract: 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… read more here.
Keywords: bardet biedl; atypical phenotype; phenotype patient; biedl syndrome ... See more keywords