Greta Amore, Giulia Spoto, Anna Scuderi, Adriana Prato, Daniela Dicanio, A. Nicotera, G. Farello, R. Chimenz, I. Ceravolo, V. Salpietro, E. Gitto, G. Ceravolo, G. Iapadre, G. Rosa, E. Pironti
{"title":"Bardet–Biedl Syndrome: A Brief Overview on Clinics and Genetics","authors":"Greta Amore, Giulia Spoto, Anna Scuderi, Adriana Prato, Daniela Dicanio, A. Nicotera, G. Farello, R. Chimenz, I. Ceravolo, V. Salpietro, E. Gitto, G. Ceravolo, G. Iapadre, G. Rosa, E. Pironti","doi":"10.1055/s-0042-1759534","DOIUrl":null,"url":null,"abstract":"Abstract Bardet–Biedl syndrome is a genetically pleiotropic disorder characterized by high clinical heterogeneity with severe multiorgan impairment. Clinically, it encompasses primary and secondary manifestations, mainly including retinal dystrophy, mental retardation, obesity, polydactyly, hypogonadism in male, and renal abnormalities. At least 21 different genes have been identified, all involved into primary cilium structure or function. To date, genotype–phenotype correlation is still poor.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"22 1","pages":"033 - 040"},"PeriodicalIF":0.2000,"publicationDate":"2022-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of pediatric neurology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1055/s-0042-1759534","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0
Abstract
Abstract Bardet–Biedl syndrome is a genetically pleiotropic disorder characterized by high clinical heterogeneity with severe multiorgan impairment. Clinically, it encompasses primary and secondary manifestations, mainly including retinal dystrophy, mental retardation, obesity, polydactyly, hypogonadism in male, and renal abnormalities. At least 21 different genes have been identified, all involved into primary cilium structure or function. To date, genotype–phenotype correlation is still poor.
期刊介绍：
The Journal of Pediatric Neurology is a multidisciplinary peer-reviewed medical journal publishing articles in the fields of childhood neurology, pediatric neurosurgery, pediatric neuroradiology, child psychiatry and pediatric neuroscience. The Journal of Pediatric Neurology, the official journal of the Society of Pediatric Science of the Yüzüncü Yil University in Turkiye, encourages submissions from authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, rapid communications, case reports, neuroimage of the month, letters to the editor and book reviews.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
