Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics,Molecular Biology,General Medicine,Immunology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1744-313X.2011.01041.x/fullpdf
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3. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy;Beales;Nature Genetics,2007
4. Mutation in IFT80 gene in a foetus with a phenotype of Verma-Naumoff provides molecular evidence for the Jeune-Verma-Naumoff dysplasia spectrum;Cavalcanti;Journal of Medical Genetics,2011
5. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III;Dagoneau;American Journal of Human Genetics,2009
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2. Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish;Proceedings of the National Academy of Sciences;2023-02-21
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