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Genetics of human Bardet-Biedl syndrome, an updates.
Khan, S A; Muhammad, N; Khan, M A; Kamal, A; Rehman, Z U; Khan, S.
Afiliación
  • Khan SA; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Khyber Pakhtunkhwa, Pakistan.
  • Muhammad N; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Khyber Pakhtunkhwa, Pakistan.
  • Khan MA; Gomal Centre of Biochemistry and Biotechnology, Gomal University, Khyber Pakhtunkhwa, Pakistan.
  • Kamal A; Genomic Core Facility, Interim Translational Research Institute, Doha, Qatar.
  • Rehman ZU; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Khyber Pakhtunkhwa, Pakistan.
  • Khan S; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Khyber Pakhtunkhwa, Pakistan.
Clin Genet ; 90(1): 3-15, 2016 07.
Article en En | MEDLINE | ID: mdl-26762677
Bardet-Biedl syndrome (BBS) is an autosomal recessive multisystemic human genetic disorder characterized by six major defects including obesity, mental retardation, renal anomalies, polydactyly, retinal degeneration and hypogenitalism. In several cases of BBS, few other features such as metabolic defects, cardiovascular anomalies, speech deficits, hearing loss, hypertension, hepatic defects and high incidence of diabetes mellitus have been reported as well. The BBS displays extensive genetic heterogeneity. To date, 19 genes have been mapped on different chromosomes causing BBS phenotypes having varied mutational load of each BBS gene. In this review, we have discussed clinical spectrum and genetics of BBS. This report presents a concise overview of the current knowledge on clinical data and its molecular genetics progress upto date.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Heterogeneidad Genética / Síndrome de Bardet-Biedl / Proteínas Asociadas a Microtúbulos / Mutación Tipo de estudio: Diagnostic_studies Límite: Female / Humans / Male Idioma: En Revista: Clin Genet Año: 2016 Tipo del documento: Article País de afiliación: Pakistán Pais de publicación: Dinamarca
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Heterogeneidad Genética / Síndrome de Bardet-Biedl / Proteínas Asociadas a Microtúbulos / Mutación Tipo de estudio: Diagnostic_studies Límite: Female / Humans / Male Idioma: En Revista: Clin Genet Año: 2016 Tipo del documento: Article País de afiliación: Pakistán Pais de publicación: Dinamarca