{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["10(5)"],"submitter":["Sloboda N"],"pubmed_abstract":["<h4>Background</h4>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 size with normal corticomedullary differentiation, anal imperforation, and malformation of genitals with presence of a genital tubercle with ventral urethral meatus associated with two unfused lateral genital swelling and absent urethral folds, in the context of 46, XY karyotype.<h4>Methods</h4>Karyotype and solo exome sequencing were performed to look for a genetic etiolog"],"journal":["Molecular genetics & genomic medicine"],"pagination":["e1869"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9034675"],"repository":["biostudies-literature"],"pubmed_title":["Atypical phenotype of a patient with Bardet-Biedl syndrome type 4."],"pmcid":["PMC9034675"],"pubmed_authors":["Lambert L","Lemelle JL","Gomola V","Bruel AL","Sloboda N","Klein O","Bonnet C","Ciorna V","Philippe C","Tran Mau-Them F","Camoin-Schweitzer MC","Ezsto ML","Legagneur C","Magnavacca M","Leheup B"],"additional_accession":[]},"is_claimable":false,"name":"Atypical phenotype of a patient with Bardet-Biedl syndrome type 4.","description":"<h4>Background</h4>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 size with normal corticomedullary differentiation, anal imperforation, and malformation of genitals with presence of a genital tubercle with ventral urethral meatus associated with two unfused lateral genital swelling and absent urethral folds, in the context of 46, XY karyotype.<h4>Methods</h4>Karyotype and solo exome sequencing were performed to look for a genetic etiolog","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 May","modification":"2025-04-20T03:06:46.958Z","creation":"2025-04-20T03:06:46.958Z"},"accession":"S-EPMC9034675","cross_references":{"pubmed":["35318824"],"doi":["10.1002/mgg3.1869"]}}