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Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review
(2009-09)
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet
and ...
Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review
(Conselho Brasileiro de Oftalmologia, 2009-10-01)
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet and ...
Visual acuity and retinal function in patients with Bardet-Biedl syndrome
(Faculdade de Medicina / USP, 2012-01-01)
OBJECTIVE: Bardet-Biedl syndrome is a genetic, multisystem disorder that causes severe visual impairment. This condition is characterized by retinal dystrophy, obesity, digit anomalies, renal disease, and hypogonadism. The ...
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
(Elsevier Inc, 2017)