Poikiloderma with neutropenia
Definition:
References:
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[1]. A W Arnold, et al. Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria. Br J Dermatol. 2010 Oct;163(4):866-9. [Content Brief]
[2]. Amanda J Walne, et al. Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. Hum Mol Genet. 2010 Nov 15;19(22):4453-61. [Content Brief]
[3]. Johan L K Van Hove, et al. Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome. Am J Med Genet A. 2005 Jan 15;132A(2):152-8. [Content Brief]
[4]. Rattanavalai Chantorn, et al. Poikiloderma with neutropenia: report of three cases including one with calcinosis cutis. Pediatr Dermatol. 2012 Jul-Aug;29(4):463-72. [Content Brief]
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