Searchable abstracts of presentations at key conferences on calcified tissues

ba0004p100 | (1) | ICCBH2015

Secondary osteoporosis in boys with Alagille syndrome -- case report

Jakubowska-Pietkiewicz Elzbieta , Smiechowicz Ewa , Chlebna-Sokol Danuta

Alagille syndrome is a multiorganic disorder, which particularly manifests itself with cholestasis, characteristic facial features, circulatory systems defects, defects of the front segment of the eye, dysplastic changes in bones and kidneys and impaired angiogenesis. The disease is caused by Jagged 1 gene mutation (JAG, 20p12 chromosome) which encodes ligand for Notch receptor. JAG/ Notch signaling pathway plays important evolutionary role in cell differentiation in organogen...