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

Francesco SaettiniAlessandro CattoniMariella D'Angio'Paola CortiSilvia MaitzFabio PagniDavide SeminatiLaura PezzoliMaria IasconeAndrea BiondiSonia Bonanomi

Published in: British journal of haematology (2020)

Keyphrases

bone marrow
peripheral blood
mesenchymal stem cells
cell cycle
high intensity
case report