A pathogenic homozygous variant of the BBS10 gene in a patient with Bardet Biedl syndrome

A pathogenic homozygous variant of the BBS10 gene in a patient with Bardet Biedl syndrome

The Bardet-Biedl syndrome is an autosomal recessive hereditary disorder with vast locus heterogeneity that belongs to the so-called ciliopathies, whose proteins are localized in the primary cilia and present functional deficiency. The multisystemic features of the disease include ocular, renal, cogn...

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Bibliographic Details
Main Authors: Luz Yaqueline Ladino, Johanna Galvis, Diana Yasnó, Adriana Ramírez, Orietta Ivonne Beltrán
Format: Article
Language:English
Published: Instituto Nacional de Salud 2018-09-01
Series:Biomédica: revista del Instituto Nacional de Salud
Subjects:
síndrome de Bardet-Biedl
polidactilia
obesidad
retinitis pigmentosa
discapacidad intelectual
cilios
Online Access:https://www.revistabiomedica.org/index.php/biomedica/article/view/4199

Internet

https://www.revistabiomedica.org/index.php/biomedica/article/view/4199

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