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Expert Opinion on Orphan Drugs, ISSN 2167-8707, 10/2017, Volume 5, Issue 10, pp. 753 - 767
Introduction: Shwachman-Diamond Syndrome (SDS) is a rare autosomal recessive disease due to mutations in the SBDS and DNAJC21 genes, both involved in ribosome... 
bone marrow failure | leukemia | Shwachman-Diamond syndrome | DNAJC21 | SBDS | ribosomopathies | HSCT | GUANINE-NUCLEOTIDE EXCHANGE | RIBOSOME BIOGENESIS | MYELODYSPLASTIC SYNDROME | PHARMACOLOGY & PHARMACY | ISOCHROMOSOME I(Q10) | STEM-CELL TRANSPLANTATION | SBDS GENE | APLASTIC-ANEMIA | BONE-MARROW FAILURE | PANCREATIC INSUFFICIENCY | HEMATOPOIETIC STEM
Journal Article
Journal Article
Pediatric Blood & Cancer, ISSN 1545-5009, 07/2015, Volume 62, Issue 7, pp. 1228 - 1231
Journal Article
Journal Article
Clinical Case Reports, ISSN 2050-0904, 01/2018, Volume 6, Issue 1, pp. 125 - 128
We report two male siblings with SDS . They have the same compound heterozygous mutations. Only one of the siblings acquired cytogenetic abnormality of i(7q) 2... 
i(7q) | cytopenia | Shwachman–Diamond syndrome
Journal Article
Journal Article
Nature, ISSN 0028-0836, 04/2010, Volume 464, Issue 7290, pp. 852 - 857
Journal Article
Journal Article
Cardiology in the Young, ISSN 1047-9511, 2014, Volume 24, Issue 3, pp. 549 - 551
Journal Article