Diagnosis, Treatment, and Molecular Pathology of Shwachman-Diamond Syndrome
Author:
Publisher
Elsevier BV
Subject
Oncology,Hematology
Reference83 articles.
1. Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7;Goobie;Am J Hum Genet,2001
2. Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features;Carapito;J Clin Invest,2017
3. Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in a Shwachman-Diamond like syndrome;Stepensky;J Med Genet,2017
4. Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome;Dhanraj;Blood,2017
5. Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry;Myers;J Pediatr,2014
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