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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Instituto Nacional de Salud
2018-09-01
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| Series: | Biomédica: revista del Instituto Nacional de Salud |
| Subjects: | |
| Online Access: | https://www.revistabiomedica.org/index.php/biomedica/article/view/4199 |