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Quoted phrase not found in phrase index: "Neutropenia, severe congenital, 8, autosomal dominant"
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Neutrophil elastase mutations in congenital neutropenia.
Ancliff PJ, Gale RE, Linch DC. Ancliff PJ, et al. Hematology. 2003 Jun;8(3):165-71. doi: 10.1080/1024533031000107497. Hematology. 2003. PMID: 12745650 Review.
Severe congenital neutropenia (SCN) was originally described as an autosomal recessive disorder. Autosomal dominant and sporadic forms of the disease have subsequently been recognized. ...
Severe congenital neutropenia (SCN) was originally described as an autosomal recessive disorder. Autosomal …
Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry.
Beaussant Cohen S, Fenneteau O, Plouvier E, Rohrlich PS, Daltroff G, Plantier I, Dupuy A, Kerob D, Beaupain B, Bordigoni P, Fouyssac F, Delezoide AL, Devouassoux G, Nicolas JF, Bensaid P, Bertrand Y, Balabanian K, Chantelot CB, Bachelerie F, Donadieu J. Beaussant Cohen S, et al. Orphanet J Rare Dis. 2012 Sep 25;7:71. doi: 10.1186/1750-1172-7-71. Orphanet J Rare Dis. 2012. PMID: 23009155 Free PMC article.
OBJECTIVE: This study aims to describe the natural history of WS based on a French cohort of 8 patients. METHODS: We have reviewed the clinical, biological and immunological features of patients with WS enrolled into the French Severe Chronic Neutropenia Regi …
OBJECTIVE: This study aims to describe the natural history of WS based on a French cohort of 8 patients. METHODS: We have reviewed th …