IDENTIFYING INVERSIONS WITH BREAKPOINTS IN THE DYSTROPHIN GENE THROUGH LONG-READ SEQUENCING: REPORT OF TWO CASES

Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases

Abstract Background Duchenne Muscular Dystrophy (DMD) is an X-linked disorder caused by mutations in the DMD gene, with large deletions being the most common type of mutation.Inversions involving the DMD gene are a less frequent cause of the disorder, largely because they often evade detection by standard diagnostic methods such as multiplex ligati

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Pulmonary Talcosis in an Immunocompromised Patient

The first case of pulmonary talcosis or talc pneumoconiosis related to inhalation of talc during its extraction and processing in mines was described by Thorel in 1896.Pulmonary talcosis is most commonly seen secondary to occupational exposure or intravenous (IV) drug abuse Pentair OptiFlo Parts and, occasionally, in excessive use of cosmetic talc.

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