SCN5 (VPS45 Deficiency)
Publisher
Springer New York
Reference4 articles.
1. ESID Registry. Clinical criteria.
esid.org/content/download/15478/424246/file/ESIDRegistry_ClinicalCriteria.pdf
. 2. Skokowa J, Dale DC, Touw IP, Zeidler C, Welte K. Severe congenital neutropenias. Nat Rev Dis Prim. 2017;3:17032. 3. Stepensky P, Simanovsky N, Averbuch D, Gross M, Yanir A, Mevorach D, Elpeleg O, Weintraub M. VPS 45-associated primary infantile myelofibrosis–successful treatment with hematopoietic stem cell transplantation. Pediatr Transplant. 2013;17:820–5. 4. Vilboux T, Lev A, Malicdan MC, Simon AJ, Järvinen P, Racek T, Puchalka J, Sood R, Carrington B, Bishop K, Mullikin J, Huizing M, Garty BZ, Eyal E, Wolach B, Gavrieli R, Toren A, Soudack M, Atawneh OM, Babushkin T, Schiby G, Cullinane A, Avivi C, Polak-Charcon S, Barshack I, Amariglio N, Rechavi G, van der Werff ten Bosch J, Anikster Y, Klein C, Gahl WA, Somech R. A congenital neutrophil defect syndrome associated with mutations in VPS45. N Engl J Med. 2013;369:54–65.
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