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UnknownGenome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic <i>ERCC6L2</i> variants.
Not available
S-EPMC6064997 | biostudies-literature
UnknownAdvances in the understanding of dyskeratosis congenita.
Not available
S-EPMC2882229 | biostudies-literature
UnknownERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.
Not available
S-EPMC3928664 | biostudies-literature
UnknownInherited bone marrow failure in the pediatric patient.
Not available
S-EPMC9373017 | biostudies-literature
UnknownClinical utility gene card for: dyskeratosis congenita.
Not available
S-EPMC3198148 | biostudies-literature
UnknownExome sequencing identifies MPL as a causative gene in familial aplastic anemia.
Not available
S-EPMC3347658 | biostudies-literature
UnknownTINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.
Not available
S-EPMC2572788 | biostudies-literature
UnknownMutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.
Not available
S-EPMC2957322 | biostudies-literature
UnknownConstitutional mutations in RTEL1 cause severe dyskeratosis congenita.
Not available
S-EPMC3591859 | biostudies-literature
UnknownTelomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2.
Not available
S-EPMC3654171 | biostudies-literature
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