Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing
Author:
Publisher
Informa UK Limited
Subject
Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health
Link
http://www.tandfonline.com/doi/pdf/10.3109/13816810.2011.620055
Reference39 articles.
1. Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease
2. Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population
3. New Alström Syndrome Phenotypes Based on the Evaluation of 182 Cases
4. Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome
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