Abstract Purpose of Review Telomere biology disorders (TBDs) encompass a spectrum of
genetic diseases with a common pathogenesis of defects in telomerase function and …

Dyskeratosis congenita (DC) was the first Telomere Biology Disorder (TBD) recognized in
the biomedical literature and initially defined by the mucocutaneous triad of lacy reticulated …

Telomere biology disorders (TBDs) are a spectrum of inherited bone marrow failure
syndromes caused by impaired telomere function due to pathogenic germline variants in …

Telomere biology disorders (TBDs) are a spectrum of genetic disorders caused by
pathogenic or likely pathogenic (P/LP) rare germline variants in genes encoding essential …

Background: Since the first edition Telomere Biology Disorder: Diagnosis and Management
Guidelines in 2015, there have been substantial advancements to the field of Telomere …

The recent recognition of genetic defects in telomeres and telomere repair in multiple human
diseases has practical implications for hematologists and oncologists and their patients; …

Dyskeratosis congenita related telomere biology disorders (DC/TBDs) are characterized by
very short telomeres caused by germline pathogenic variants in telomere biology genes …

Introduction: Telomeres are noncoding nucleotide repeats at chromosomal ends, which
provide genomic stability and are maintained and regulated by specific protein complexes …

Dyskeratosis congenita (DC) and related diseases are a heterogeneous group of disorders
characterized by impaired telomere maintenance, known collectively as the …

The end of each chromosome consists of a DNA region termed the telomeres. The
telomeres serve as a protective shield against degradation of the coding DNA sequence, as …