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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,...

Topics

Cartilage
Cartilage Diseases
Cyclin B
Cyclin B2
Endonucleases
Genetic Predisposition to Disease
Hair
Humans
Hyperplasia
Mitochondria
Mutation
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

RNA Precursors

RNA Processing, Post-Transcriptional

Source

Identifiers

PMID: 18978468
DOI: 10.1097/ACI.0b013e328310fe7d

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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