TY - JOUR
T1 - Severe liver impairment in a cystic fibrosis-affected child homozygous for the G542X mutation
AU - Castaldo, Giuseppe
AU - Rippa, Emilia
AU - Salvatore, Donatello
AU - Sibillo, Raffaella
AU - Raia, Valeria
AU - De Ritis, Giorgio
AU - Salvatore, Francesco
PY - 1997/3/17
Y1 - 1997/3/17
N2 - The clinical and laboratory findings of a cystic fibrosis (CF) patient homozygous for the G542X mutation are described. This is the first case, among the 7 G542X homozygous CF subjects described so far who shows severe liver involvement, associated pancreatic insufficiency, and moderate pulmonary expression of the disease, as demonstrated by laboratory and imaging data. This case adds to the conclusion that genotype/phenotype correlation in cystic fibrosis is more complex than formerly suspected.
AB - The clinical and laboratory findings of a cystic fibrosis (CF) patient homozygous for the G542X mutation are described. This is the first case, among the 7 G542X homozygous CF subjects described so far who shows severe liver involvement, associated pancreatic insufficiency, and moderate pulmonary expression of the disease, as demonstrated by laboratory and imaging data. This case adds to the conclusion that genotype/phenotype correlation in cystic fibrosis is more complex than formerly suspected.
KW - cystic fibrosis
KW - G542X mutation
KW - genotype/phenotype correlation
KW - liver
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U2 - 10.1002/(SICI)1096-8628(19970317)69:2<155::AID-AJMG7>3.0.CO;2-O
DO - 10.1002/(SICI)1096-8628(19970317)69:2<155::AID-AJMG7>3.0.CO;2-O
M3 - Article
C2 - 9056552
AN - SCOPUS:0031041718
VL - 69
SP - 155
EP - 158
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 2
ER -