No evidence for triallelic inheritance ofMKKS/BBS loci in Amish Mckusick-Kaufman syndrome
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference11 articles.
1. Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2
2. Comparative Genomic Analysis Identifies an ADP-Ribosylation Factor–like Gene as the Cause of Bardet-Biedl Syndrome (BBS3)
3. Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome
4. Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder
5. Comparative Genomics Identifies a Flagellar and Basal Body Proteome that Includes the BBS5 Human Disease Gene
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1. Bardet-Biedl syndrome;Genetics and Genomics of Eye Disease;2020
2. Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly;Journal of Medical Genetics;2017-11-10
3. Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling;PLOS Genetics;2015-11-05
4. Human Genetics and Clinical Aspects of Neurodevelopmental Disorders;The Genetics of Neurodevelopmental Disorders;2015-07-24
5. A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome;Chinese Medical Journal;2014-12-20
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