Associated Papers
Neonatal erythroderma in a patient with cartilage-hair hypoplasia: Identification of a novel RMRP mutation.
López-Pardo Rico M et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2025
RMRP variants inhibit the cell cycle checkpoints pathway in cartilage‑hair hypoplasia.
Gao J et al.
Molecular Medicine Reports, 2025
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
Decreased telomere length in children with cartilage-hair hypoplasia.
Kostjukovits S et al.
Journal of Medical Genetics, 2017
Cartilage-hair hypoplasia: follow-up of immunodeficiency in two patients.
Kainulainen L et al.
Journal of Clinical Immunology, 2014
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
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.
Thiel CT et al.
American Journal of Human Genetics, 2005
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
Bonafé L et al.
Plos Genetics, 2005
Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.
Ridanpää M et al.
Cell, 2001
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