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Molecular diagnosis of Shwachman-Diamond syndrome in a pediatric patient. Targeted sequencing of pre-leukemia blood DNA and (A) whole exome sequencing analysis of buccal swab DNA at AML diagnosis reveal compound heterozygous mutations impacting SBDS gene, consistent with an autosomal recessive Shwachman-Diamond syndrome. (B) Schematic representation of SBDS coding sequence (NM_016038), with confirmed c.120delG (exonic), and c.258+2T>C (intronic/splicing) mutations.
