Type and Level of RMRP Functional Impairment Predicts Phenotype in the Cartilage Hair Hypoplasia–Anauxetic Dysplasia Spectrum
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
Reference24 articles.
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2. An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature;Menger;Am J Med Genet,1996
3. Evolutionary comparison provides evidence for pathogenicity of RMRP mutations;Bonafe;PLoS Genet,2005
4. Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex;Welting;Nucleic Acids Res,2004
5. Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia;Hermanns;Hum Mol Genet,2005
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1. Shorter birth length and decreased T-cell production and function predict severe infections in children with non–severe combined immunodeficiency cartilage–hair hypoplasia;Journal of Allergy and Clinical Immunology: Global;2024-02
2. Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia;Journal of Clinical Immunology;2023-04-28
3. Prenatal Cases Reflect the Complexity of the COL1A1/2 Associated Osteogenesis Imperfecta;Genes;2022-09-02
4. Immunologic heterogeneity in two Cartilage-Hair Hypoplasia (CHH) patients with distinct clinical course;Journal of Investigational Allergy and Clinical Immunology;2022-02-10
5. A novel experimental approach for the selective isolation and characterization of human RNase MRP;RNA Biology;2022-02-06
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