Article
Hepatocyte nuclear factor-1 alpha gene inactivation: cosegregation between liver adenomatosis and diabetes phenotypes in two maturity-onset diabetes of the young (MODY)3 families.
The Journal of clinical endocrinology and metabolism - 1 Mar 2004
Reznik Yves, Dao Thong, Coutant Regis, Chiche Laurence, Jeannot Emmanuelle, Clauin Severine, Rousselot Pierre, Fabre Monique, Oberti Frederic, Fatome Armelle, Zucman-Rossi Jessica, Bellanne-Chantelot Christine
Abstract excerpt
Heterozygous germline mutations of the hepatocyte nuclear factor (HNF)-1 alpha are associated with maturity-onset diabetes of the young (MODY)3. Recently, the biallelic inactivation of the HNF-1 alpha gene was reported in liver adenomas. We show the occurrence of liver adenomatosis in six MODY3-affected patients from two unrelated and large families. Liver adenomatosis was characterized by the presence of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.