X-linked recessive chondrodysplasia punctata: Spectrum of arylsulfatase E gene mutations and expanded clinical variability-Reference-Cited by-同舟云学术

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

Published:2002-10-02 Issue:2 Volume:117A Page:164-168
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

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

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference27 articles.

1. Chondrodysplasia punctata with X;Y translocation;Agematsu;Hum Genet,1988

2. X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene;Ballabio;Clin Genet,1988

3. Molecular heterogeneity of steroid sulfatase deficiency: A multicenter study on 57 unrelated patients, at DNA and protein levels;Ballabio;Genomics,1989

4. Two families of low-copy-number repeats are interspersed on Xp22.3: Implications for the high frequency of deletions in this region;Ballabio;Genomics,1990

5. Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency;Ballabio;Am J Med Genet,1991

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