SEVERE LIVER IMPAIRMENT IN A CYSTIC FIBROSIS-AFFECTED CHILD HOMOZYGOUS FOR THE G542X MUTATION

Citation
G. Castaldo et al., SEVERE LIVER IMPAIRMENT IN A CYSTIC FIBROSIS-AFFECTED CHILD HOMOZYGOUS FOR THE G542X MUTATION, American journal of medical genetics, 69(2), 1997, pp. 155-158
Citations number
21
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
69
Issue
2
Year of publication
1997
Pages
155 - 158
Database
ISI
SICI code
0148-7299(1997)69:2<155:SLIIAC>2.0.ZU;2-S
Abstract
The clinical and laboratory findings of a cystic fibrosis (CF) patient homozygous for the G542X mutation are described. This is the first ca se, among the 7 G542X homozygous CF subjects described so far who show s severe liver involvement, associated pancreatic insufficiency, and m oderate pulmonary expression of the disease, as demonstrated by labora tory and imaging data, This case adds to the conclusion that genotype/ phenotype correlation in cystic fibrosis is more complex than formerly suspected. (C) Wiley-Liss, Inc.