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Article

Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype.

Current opinion in allergy and clinical immunology - 1 Dec 2008

Notarangelo Luigi D, Roifman Chaim M, Giliani Silvia

Abstract excerpt

PURPOSE OF REVIEW: To report on the expanding clinical and immunological spectrum associated with ribonuclease mitochondrial RNA-processing mutations and to review the cellular and molecular mechanisms involved in the pathophysiology of cartilage-hair hypoplasia (CHH) and related disorders in humans. RECENT FINDINGS: Different types of mutations are associated with skeletal or extraskeletal manifestations of CHH,...

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Source

Identifiers

PMID: 18978468
DOI: 10.1097/ACI.0b013e328310fe7d

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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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