Associated Papers
Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations.
Morini J et al.
British Journal of Haematology, 2019
Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients.
Minelli A et al.
Blood Cells, Molecules & Diseases, 2016
Immunophenotypic analysis of hematopoiesis in patients suffering from Shwachman-Bodian-Diamond Syndrome.
Mercuri A et al.
European Journal of Haematology, 2015
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