Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference12 articles.
1. Poikiloderma with neutropenia in Morocco: a report of four cases;Aglaguel;J. Clin. Immunol.,2017
2. Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria;Arnold;Br. J. Dermatol.,2010
3. Immune deficient poikiloderma; a new genodermatosis;Clericuzio;Am. J. Hum. Genet.,1991
4. Identification of a novel C16orf57 mutation in Athabaskan patients with poikiloderma with neutropenia;Clericuzio;Am. J. Med. Genet.,2011
5. Novel C16orf57 mutations in patients withpoikiloderma with neutropenia: bioinformatic analysis of the proteinand predicted effects of all reportedmutations;Colombo;Orphanet J. Rare Dis.,2012
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