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Familial pneumothorax in twins with Tatton-Brown-Rahman DNMT3A overgrowth syndrome - European Journal of Human Genetics
Abstract Spontaneous pneumothorax is a common respiratory presentation that may signal underlying genetic disease. Familial pneumothorax occurs in ~10% of primary cases, yet 75% remain genetically unclassified. We report identical twin brothers presenting with spontaneous pneumothoraces in adulthood, leading to a diagnosis of Tatton-Brown-Rahman syndrome (TBRS), a DNMT3A-related overgrowth disorder not previously associated with pneumothorax.
Response of NOTCH1-Activated Tracheal Adenoid Cystic Carcinoma to the Gamma Secretase Inhibitor Nirogacestat
Introduction Primary tumors of the trachea are rare, with an incidence of around 2.6 cases per million people per year.1 Around one third of these are adenoid cystic carcinoma (ACC).
Incidental PET-CT findings in a tertiary lung cancer referral centre: a retrospective analysis
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