Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman-Diamond-like syndrome.

Francesco Saettini, Alessandro Cattoni, Mariella D'Angio', Paola Corti, Silvia Maitz, Fabio Pagni, Davide Seminati, Laura Pezzoli, Maria Iascone, Andrea Biondi, Sonia Bonanomi

British journal of haematology 2020 May

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Francesco Saettini, Alessandro Cattoni, Mariella D'Angio', Paola Corti, Silvia Maitz, Fabio Pagni, Davide Seminati, Laura Pezzoli, Maria Iascone, Andrea Biondi, Sonia Bonanomi. Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman-Diamond-like syndrome. British journal of haematology. 2020 May;189(4):e171-e174