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Article

X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.

American journal of medical genetics. Part A - 1 Mar 2003

Brunetti-Pierri Nicola, Andreucci Maria Vittoria, Tuzzi Rosaria, Vega Giovanna Roberta, Gray George, McKeown Carol, Ballabio Andrea, Andria Generoso, Meroni Germana, Parenti Giancarlo

Abstract excerpt

X-linked chondrodysplasia punctata (CDPX1), due to mutations of the arylsulfatase E (ARSE) gene, is a congenital disorder characterized by abnormalities in cartilage and bone development. We performed mutational analysis of the ARSE gene in a series of 16 male patients, and we found mutations in...

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Source

Identifiers

PMID: 12567415
DOI: 10.1002/ajmg.a.10950

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12567415-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.PMID 12567415Read ↗

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