Fanconi anaemia (FA) is an inherited disease with congenital and developmental abnormalities, bone marrow failure, and extreme risk of leukemic transformation. Bone marrow surveillance is an important part of the clinical ...

Die Hochdurchsatzsequenzierung gesamter Genome ist technisch bereits auf einem hohen Stand und wird als kostengünstigere Alternative zu anderen gezielten analytischen Verfahren in der klinischen Diagnostik genetischer ...

High-throughput nucleotide sequencing (often referred to as next-generation sequencing; NGS) is increasingly being chosen as a diagnostic tool for cases of expected but unresolved genetic origin. When exploring a higher ...

Background: ICF syndrome (standing for Immunodeficiency, Centromere instability and Facial anomalies syndrome) is a very rare autosomal recessive immune disorder caused by mutations of the gene de novo DNAmethyltransferase ...