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

Authors :: Saettini F
Cattoni A
D'Angio' M
Corti P
Maitz S
Pagni F
Seminati D
Pezzoli L
Iascone M
Biondi A
Bonanomi S
Source :: British journal of haematology [Br J Haematol] 2020 May; Vol. 189 (4), pp. e171-e174. Date of Electronic Publication: 2020 Mar 20.
Publication Year :: 2020

Subjects :: Child, Preschool
Humans
Male
Mutation
Bone Marrow metabolism
Neutrophils metabolism
Shwachman-Diamond Syndrome genetics
Signal Recognition Particle genetics

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