Autosomal Recessive Rod–Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in <i>BBS9</i>

Autosomal Recessive Rod–Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in <i>BBS9</i>

Bardet–Biedl syndrome (BBS), one of the most common forms of syndromic inherited retinal diseases (IRDs), is characterized by the combination of retinal degeneration with additional extra-ocular manifestations, including obesity, intellectual disability, kidney disease, polydactyly and other skeleta...

Full description

Bibliographic Details
Main Authors: Iris Deitch, Sofia Itskov, Daan Panneman, Aasem Abu Shtaya, Tal Saban, Yael Goldberg, Miriam Ehrenberg, Frans P. M. Cremers, Susanne Roosing, Tamar Ben-Yosef
Format: Article
Language:English
Published: MDPI AG 2024-03-01
Series:Current Issues in Molecular Biology
Subjects:
retina
retinitis pigmentosa
rod–cone dystrophy
<i>BBS9</i>
Bardet–Biedl syndrome
Online Access:https://www.mdpi.com/1467-3045/46/3/163

Similar Items

Similar Items