Severe liver impairment in a cystic fibrosis-affected child homozygous for the G542X mutation

Giuseppe Castaldo; Emilia Rippa; Donatello Salvatore; Raffaella Sibillo; Valeria Raia; Giorgio De Ritis; Francesco Salvatore

doi:10.1002/(SICI)1096-8628(19970317)69:2<155::AID-AJMG7>3.0.CO;2-O

Severe liver impairment in a cystic fibrosis-affected child homozygous for the G542X mutation

Giuseppe Castaldo, Emilia Rippa, Donatello Salvatore, Raffaella Sibillo, Valeria Raia, Giorgio De Ritis, Francesco Salvatore

Ospedale Pediatrico Bambino Gesu

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	155-158
Number of pages	4
Journal	American Journal of Medical Genetics
Volume	69
Issue number	2
DOIs	https://doi.org/10.1002/(SICI)1096-8628(19970317)69:2<155::AID-AJMG7>3.0.CO;2-O
Publication status	Published - Mar 17 1997

Keywords

cystic fibrosis
G542X mutation
genotype/phenotype correlation
liver

ASJC Scopus subject areas

Genetics(clinical)

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10.1002/(SICI)1096-8628(19970317)69:2<155::AID-AJMG7>3.0.CO;2-O

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Severe liver impairment in a cystic fibrosis-affected child homozygous for the G542X mutation. / Castaldo, Giuseppe; Rippa, Emilia; Salvatore, Donatello; Sibillo, Raffaella; Raia, Valeria; De Ritis, Giorgio; Salvatore, Francesco.

In: American Journal of Medical Genetics, Vol. 69, No. 2, 17.03.1997, p. 155-158.

Research output: Contribution to journal › Article › peer-review

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Severe liver impairment in a cystic fibrosis-affected child homozygous for the G542X mutation

Abstract

Keywords

ASJC Scopus subject areas

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