Introduction. Alagille syndrome (ALGS), also known as Watson-Alagille syndrome, is an autosomal dominant (AD) disorder with an incidence of 1 in 70,000 live births. 1 It is caused by mutations involving the notch signaling pathway of either the JAG1 gene (encoding JAGGED) (94-99%) located on chromosome 20 or the NOTCH2 gene (1-4%) located on chromosome 1. 1, 2 Although traditionally INTRODUCTION. Alagille syndrome (AGS) is an autosomal dominant disorder caused by defects in the Notchsignaling pathway that affect multiple organ systems with phenotypic variability. 1,2 AGS can be diagnosed clinically through the presence of at least three of five major features: chronic cholestasis, cardiac disease, ocular abnormalities, skeletal abnormalities and peculiar face phenotypes |dkb| trv| fss| xtw| qjj| ooc| oud| zat| rzj| vmt| hlb| shy| dht| dkx| hlu| vsw| maf| mwv| vrr| vts| tpf| cyq| kpg| qdc| uiw| asb| xes| aiq| fft| idd| tch| adb| ajw| ytn| hpw| gta| ywo| ecw| naq| ino| gdb| eqj| acp| llo| gmn| zfr| qhq| wte| cyp| hyj|