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Cablefax 06/03/2020 18:14
One of the primary undercurrents I have written about in this column for years is our reasonable pride at having been the creators and maintainers of an incredible telecommunications infrastructure and the. .
Background. The phenotypes of patients with the recently discovered, dominant, ETV6 -linked leukaemia predisposition and familial thrombocytopenia syndrome are variable, and the exact mechanism of leukaemogenesis remains unclear. Patients and Methods. Here, we present novel clinical and laboratory phenotypes of seven individuals from three families with ETV6 germline mutations and a refined genetic analysis of one child with additional high-hyperdiploid acute lymphoblastic leukaemia (HD-ALL), aiming to elucidate second oncogenic hits. Results. Four individuals from two pedigrees harboured one novel or one previously described variant in the central domain of ETV6 (c.592C>T, p.Gln198* or c.641C>T, p.Pro241Leu, respectively). Neutropenia was
Background. Adolescent idiopathic scoliosis (AIS) is a genetically heterogeneous disease characterised by three-dimensional deformity of the spine in the absence of a congenital spinal anomaly or neurological musculoskeletal disorder. The clinical variability and incomplete penetrance of some genes linked with AIS indicate that this disease constitutes an oligogenic trait. Objective. We aimed to explore the oligogenic nature of this disease and identify novel AIS genes. Methods. We analysed rare damaging variants within AIS-associated genes by using exome sequencing in 40 AIS trios and 183 sporadic patients. Results. Multiple variants within AIS-associated genes were identified in eight AIS trios, and five individuals harboured rare damaging va.


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