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 12 subjects. Clinical variability was observed among the patients, including severe presentations with early lethality...
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