Hematologically important mutations: Shwachman–Diamond syndrome
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Hematology,Molecular Biology,Molecular Medicine
Reference13 articles.
1. The syndrome of pancreatic insufficiency and bone marrow dysfunction;Shwachman;J. Pediatr.,1964
2. Shwachman–Diamond syndrome presenting as hepatosplenomegaly;Wilschanski;J. Pediatr. Gastroenterol. Nutr.,1994
3. Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar;Ginzberg;J. Pediatr.,1999
4. 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
5. Fine mapping of the locus for Shwachman–Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene;Popovic;Eur. J. Hum. Genet.,2002
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1. Inherited Bone Marrow Failure Syndromes;Comprehensive Hematology and Stem Cell Research;2024
2. A Comparative Molecular Dynamics Study of Selected Point Mutations in the Shwachman–Bodian–Diamond Syndrome Protein SBDS;International Journal of Molecular Sciences;2022-07-19
3. Interaction of the GTPase Elongation Factor Like-1 with the Shwachman-Diamond Syndrome Protein and Its Missense Mutations;International Journal of Molecular Sciences;2018-12-12
4. Inherited and Acquired Myeloid Neoplasms of Childhood;Molecular Pathology Library;2017-09-13
5. Nutritional Status in Children With Shwachman-Diamond Syndrome;Pancreas;2015-05
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