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Article

Novel mutation in boy with cartilage-hair hypoplasia.

Pediatrics and neonatology - 1 Dec 2010

Lin I-Chun, Yu Hong-Ren, Lin Ying-Jui, Wang Tzu-Jou

Abstract excerpt

BACKGROUND: Cartilage-hair hypoplasia (MIM 250250) is an autosomal recessive disease with diverse clinical manifestations. The clinical phenotypes include variable degrees of bone and hair dysplasia, deficient cellular and/or humoral immunity, and a predisposition to malignancy. METHODS: We perfo...

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PMID: 21146796
DOI: 10.1016/S1875-9572(10)60063-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21146796-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Novel mutation in boy with cartilage-hair hypoplasia.PMID 21146796Read ↗

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RMRP-related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review.Semantic proximity Read ↗

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Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation.Semantic proximity Read ↗

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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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