Article
A novel insertion (c.1098dupT) in the albumin gene causes analbuminemia in a consanguineous family.
European journal of medical genetics - 1 Feb 2019
Caridi Gianluca, Lugani Francesca, Rigat Brigitte, Van den Abeele Patrick, Layet Valérie, Gavard Marie-Sophie, Campagnoli Monica, Galliano Monica, Minchiotti Lorenzo
Abstract excerpt
Congenital analbuminemia (OMIM # 616000) is an extremely rare autosomal recessive disorder, caused by variations in the albumin gene (ALB), which is generally thought to be a relatively benign condition in adulthood, but seems to be potentially life threatening in the pre- and peri-natal period. The subject of our study was a consanguineous family, in which we identified two analbuminemic individuals. Mutation...
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