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Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman-Diamond-like syndrome.
Saettini F, Cattoni A, D'Angio' M, Corti P, Maitz S, Pagni F, Seminati D, Pezzoli L, Iascone M, Biondi A, Bonanomi S. Saettini F, et al. Br J Haematol. 2020 May;189(4):e171-e174. doi: 10.1111/bjh.16585. Epub 2020 Mar 20. Br J Haematol. 2020. PMID: 32196641 Free article. No abstract available.
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein-Taybi Syndrome Patients.
Saettini F, Herriot R, Prada E, Nizon M, Zama D, Marzollo A, Romaniouk I, Lougaris V, Cortesi M, Morreale A, Kosaki R, Cardinale F, Ricci S, Domínguez-Garrido E, Montin D, Vincent M, Milani D, Biondi A, Gervasini C, Badolato R. Saettini F, et al. J Clin Immunol. 2020 Aug;40(6):851-860. doi: 10.1007/s10875-020-00808-4. Epub 2020 Jun 27. J Clin Immunol. 2020. PMID: 32594341
49 results