Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in a Shwachman-Diamond like syndrome

Polina Stepensky, Montserrat Chacón-Flores, Katherine H. Kim, Omar Abuzaitoun, Arnulfo Bautista-Santos, Natalia Simanovsky, Dritan Siliqi, Davide Altamura, Alfonso Méndez-Godoy, Abril Gijsbers, Adeeb Naser Eddin, Talia Dor, Joel Charrow, Nuria Sánchez-Puig*, Orly Elpeleg

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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Biochemistry, Genetics and Molecular Biology