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. 2019 May;185(3):627-630.
doi: 10.1111/bjh.15594. Epub 2018 Sep 10.

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

Jacopo Morini  1 , Lucia Nacci  2 , Gabriele Babini  1 , Simone Cesaro  3 , Roberto Valli  4 , Andrea Ottolenghi  1 , Elena Nicolis  5 , Emily Pintani  5 , Emanuela Maserati  4 , Marco Cipolli  6 , Cesare Danesino  2 , Claudia Scotti  2 , Antonella Minelli  2
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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

Jacopo Morini et al. Br J Haematol. 2019 May.
No abstract available

Keywords: Shwachman-Diamond syndrome; bone marrow diseases; computational biology; single nucleotide polymorphisms; whole exome sequencing.

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