A NovelRAB33BMutation in Smith-McCort Dysplasia
Author:
Affiliation:
1. Institute of Medical and Human Genetics, Charité; Campus Virchow-Klinikum; Berlin; Germany
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference20 articles.
1. Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve-Melchior-Clausen locus;Alshammari;J Med Genet,2012
2. Rab GEFs and GAPs;Barr;Curr Opin Cell Biol,2010
3. Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia);Bayrak;Diagn Interv Radiol,2005
4. Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene;Cohn;Am J Hum Genet,2003
5. The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus;Dimitrov;Hum Mol Genet,2009
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1. A Rab33b missense mouse model for Smith-McCort dysplasia shows bone resorption defects and altered protein glycosylation;Frontiers in Genetics;2023-06-08
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