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

Authors

  1. Correspondence to Nuria Sánchez-Puig, Departamento de Química de Biomacromoléculas, Instituto de Química, Universidad Nacional Autónoma de México, Ciudad de México, México; nuriasp{at}unam.mx and Professor Orly Elpeleg, Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel; elpeleg{at}hadassah.org.il
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Citation

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 aShwachman-Diamond like syndrome

Publication history

  • Received October 11, 2016
  • Revised January 19, 2017
  • Accepted January 21, 2017
  • First published March 22, 2017.
Online issue publication 
July 25, 2017

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