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- Title
Clinical utility gene card for: poikiloderma with neutropenia.
- Authors
Larizza, Lidia; Negri, Gloria; Colombo, Elisa Adele; Volpi, Ludovica; Sznajer, Yves
- Abstract
The article offers information on the genetic aspects of poikiloderma with neutropenia (PN) disorder. PN is a very rare autosomal recessive inherited genodermatosis first described in the Navajo tribe of Native Americans. Studies have detected 19 different C16orf57 mutations in 37 PN patients subjected to molecular-genetic testing. PN is a very rare disorder, and only 37 patients subjected to molecular-genetic testing have been reported in the literature.
- Subjects
NEUTROPENIA; GRANULOCYTOPENIA; NATIVE Americans; GENETIC disorders; MEDICAL genetics
- Publication
European Journal of Human Genetics, 2013, Vol 21, Issue 10, p1
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/ejhg.2012.298