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