Article

PRIMARY PEDIATRIC MYELOFIBROSIS WITH A NOVEL CALRETICULIN GENE MUTATION

2024-01-31

Abstract excerpt

Primary myelofibrosis in childhood is a rare occurrence. We report a case of 12-year-old female who had a three year history of progressive abdominal distension with two months history of increasing pallor and associated symptoms. On evaluation she was found to have primary myelofibrosis with a novel frameshift deletion in the Calreticulin gene leading to premature truncation of the protein. Patient responded to h...

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Literature Corpus work: a9778bd9-38a5-59ab-b4c3-f395d0a22c8e
DOI: 10.22541/au.170669932.21344949/v1

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