DOI:
10.1055/s-00029027
Journal of Pediatric Genetics
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References
Stepensky P, Chacón-Flores M, Kim KH. , et al.
Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in a Shwachman-Diamond like syndrome.
J Med Genet 2017;
54 (08) 558-566
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