Ontology highlight
ABSTRACT:
SUBMITTER: Kamath BM
PROVIDER: S-EPMC1735339 | biostudies-other | 2003 Dec
REPOSITORIES: biostudies-other
Kamath B M BM Bason L L Piccoli D A DA Krantz I D ID Spinner N B NB
Journal of medical genetics 20031201 12
<h4>Background</h4>Alagille syndrome (AGS) is a multi-system, autosomal dominant disorder with highly variable expressivity, caused by mutations within the Jagged1 (JAG1) gene.<h4>Methods</h4>We studied 53 mutation positive relatives of 34 AGS probands to ascertain the frequency of clinical findings in JAG1 mutation carriers.<h4>Results</h4>Eleven of 53 (21%) mutation positive relatives had clinical features that would have led to a diagnosis of AGS. Seventeen of the 53 (32%) relatives had mild ...[more]