Males with Paternally Inherited MKRN3 Mutations May Be Asymptomatic.

Autor: Dimitrova-Mladenova MS; Department of Endocrinology and Genetics, University Children's Hospital, Medical University Sofia, Sofia, Bulgaria. Electronic address: mihaela_mail@abv.bg., Stefanova EM; Department of Endocrinology and Genetics, University Children's Hospital, Medical University Sofia, Sofia, Bulgaria., Glushkova M; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria; Genetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria., Todorova AP; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria; Genetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria., Todorov T; Genetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria., Konstantinova MM; Department of Endocrinology and Genetics, University Children's Hospital, Medical University Sofia, Sofia, Bulgaria., Kazakova K; Department of Endocrinology and Genetics, University Children's Hospital, Medical University Sofia, Sofia, Bulgaria., Tincheva RS; Department of Endocrinology and Genetics, University Children's Hospital, Medical University Sofia, Sofia, Bulgaria.

Publikováno v: The Journal of pediatrics [J Pediatr] 2016 Dec; Vol. 179, pp. 263-265. Date of Electronic Publication: 2016 Sep 15.

First Bulgarian case of citrin deficiency caused by one novel and one recurrent mutation in the SLC25A13 gene.

Autor: Avdjieva-Tzavella DM, Ivanova MB, Todorov TP, Todorova AP, Panteleeva EI, Tincheva SS, Lazarova EA, Kathom HM, Yaneva PG, Tincheva RS

Publikováno v: Genetic counseling (Geneva, Switzerland) [Genet Couns] 2014; Vol. 25 (3), pp. 271-6.