Articles with "germline abl1" as a keyword



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Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome

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Published in 2019 at "Medicine"

DOI: 10.1097/md.0000000000014782

Abstract: Rationale: Clinical and genetic management of patients with rare syndromes is often a difficult, confusing, and slow task. Patient concerns: Male child patient with a multisystemic disease showing congenital heart defects, facial dysmorphism, skeletal malformations,… read more here.

Keywords: abl1 mutations; associated syndrome; abl1; germline abl1 ... See more keywords