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Article

Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations.

The Journal of allergy and clinical immunology - 1 Dec 2008

Kavadas Fotini D, Giliani Silvia, Gu Yiping, Mazzolari Evelina, Bates Andrea, Pegoiani Eleonora, Roifman Chaim M, Notarangelo Luigi D

Abstract excerpt

BACKGROUND: Cartilage hair hypoplasia is an autosomal recessive type of metaphyseal chondrodysplasia, caused by mutations in the ribonuclease mitochondrial RNA processing (RMRP) gene. Typical features of cartilage hair hypoplasia include short stature, a predisposition to malignancy, and a variable degree of impairment of cellular immunity. OBJECTIVE: We sought to describe the heterogeneity of clinical and...

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Identifiers

PMID: 18804272
DOI: 10.1016/j.jaci.2008.07.036

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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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