Associated Papers
Phenotypic variations of cartilage hair hypoplasia: granulomatous skin inflammation and severe T cell immunodeficiency as initial clinical presentation in otherwise well child with short stature.
McCann LJ et al.
Journal of Clinical Immunology, 2014
Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations.
Kavadas FD et al.
The Journal of Allergy and Clinical Immunology, 2008
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
Bonafé L et al.
Plos Genetics, 2005
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