Associated Papers
Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia.
Aubert G et al.
The Journal of Allergy and Clinical Immunology, 2017
Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.
de la Fuente MA et al.
The Journal of Allergy and Clinical Immunology, 2011
The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum.
Thiel CT et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2011
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
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.
Thiel CT et al.
American Journal of Human Genetics, 2007
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