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Article

The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum.

Best practice & research. Clinical endocrinology & metabolism - 1 Feb 2011

Thiel Christian T, Rauch Anita

Abstract excerpt

Cartilage-hair hypoplasia and anauxetic dysplasia are two autosomal recessive skeletal dysplasias characterized by different degrees from metaphyseal to spondylo-meta-epiphyseal dysplasia and variable additional features including predisposition to cancer, anemia, immunodeficiency, and gastrointestinal malabsorption and Hirschsprung's disease. Both are caused by mutations in the untranslated RMRP gene, which...

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Identifiers

PMID: 21396580
DOI: 10.1016/j.beem.2010.08.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum.PMID 21396580Read ↗

Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.Semantic proximity Read ↗

Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders harboring RMRP mutations in two Korean children: A case report.Semantic proximity Read ↗

Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.Semantic proximity Read ↗

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.Semantic proximity Read ↗

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A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia.Semantic proximity Read ↗

Anauxetic dysplasia: A rare clinical entity.Semantic proximity Read ↗

RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.Semantic proximity Read ↗

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Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.Semantic proximity Read ↗

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RMRP variants inhibit the cell cycle checkpoints pathway in cartilage‑hair hypoplasiaSemantic proximity Read ↗

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