Quadruple the Considerations: Four Genetic Conditions Unveiled in the Setting of Developmental Delays Including a Complex DMD Rearrangement, Telomere Biology Disorder, and Neurodevelopmental Disorders.
Sign Up to like & getrecommendations! Published in 2025 at "Journal of child neurology"
DOI: 10.1177/08830738251383989
Abstract: We present a patient with dystrophinopathy and additional complex genetic variants to highlight potential challenges in directing the care and discussion of treatment options. A 12-month-old male child presented to neurology with global delays, including… read more here.
Keywords: disorder neurodevelopmental; neurology; biology; biology disorder ... See more keywords
Functional interaction between compound heterozygous TERT mutations causes severe telomere biology disorder
Sign Up to like & getrecommendations! Published in 2022 at "Blood Advances"
DOI: 10.1182/bloodadvances.2022007029
Abstract: Key Points A patient with a severe form of telomere biology disorder has compound heterozygous variants in TERT that interact functionally. The functional interaction between alleles explains the much more extreme phenotype in the proband… read more here.
Keywords: biology disorder; compound heterozygous; telomere biology; functional interaction ... See more keywords