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Article

Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia.

Pediatric nephrology (Berlin, Germany) - 1 Dec 2009

Bacchetta Justine, Ranchin Bruno, Brunet Anne Sophie, Bouvier Raymonde, Duquesne Agnès, Edery Patrick, Fabien Nicole, Peretti Noël

Abstract excerpt

McKusick type metaphyseal chondrodysplasia, or cartilage hair hypoplasia (CHH), is a rare autosomal recessive osteochondrodysplasia secondary to a mutation in the RMRP gene. In addition to the metaphyseal chondrodysplasia and the short-limb dwarfism, patients may present with a multisystemic dise...

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Identifiers

PMID: 19626344
DOI: 10.1007/s00467-009-1256-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19626344-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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