… A, Mature-looking T-PLL lymphocyte with cytoplasmic blebs in … A range of phenotypes have
been described in individuals … not tested, based on clinical presentation, our patient is likely …

… repair deficiency, ataxia telangiectasia, Nijmegen breakage … abrogated can lead to colorectal
cancers in adults (16, 17) without … Clinical presentations can be as subtle as loss of deep …

… of phenotypes, including telangiectasia, and ataxia caused by … iPSCs were presented to the
triinstitutional stem cell forum, a … we studied are among the most mature hPSC-derived CNS …

… and chronic bronchitis and bronchiectasis in adults is seen. … degenerative phenotype viz.,
developmental delay, ataxia, and … as XP, CS, and ataxia telangiectasia. It has been attributed to …

… saccade in a patient with ataxia telangiectasia. (D) Gaze-evoked … associated with a milder
phenotype. In Japan, AOA1 is the … Forms of AT in adults have been described either with early …

… , relatively static ataxia in childhood and young adulthood. … and then briefly describe the
classical phenotypes of the more … Ataxia telangiectasia (AT) has a prevalence of 1 in 40,000 to …

… ’ phenotype, genotype and course of disease shed light on … and recognition of possible
presentations at an adult age. … lymph node revealed classical Hodgkin lymphoma of mixed …

… classical PFBC genes in terms of disease penetrance and phenotypic presentation is very
… Adult brain calcification findings presenting with vascular events (ischemic or hemorrhagic) …

… (A) An infant with ataxia telangiectasia and RV+ cutaneous … above but worth noting is a mild
T-cell dysfunction.This is not … a humorally immunosuppressed adult patient presenting with …

… large-cell morphology, a mature B cell phenotype, and lack … aggressive mature B cell
lymphomas in WHO-HAEM5 in the light … lymphomas mainly on the basis of the site of presentation (…