학술논문
Clinical utility gene card for: poikiloderma with neutropenia.
Document Type
Article
Source
Subject
*NEUTROPENIA
*GRANULOCYTOPENIA
*NATIVE Americans
*GENETIC disorders
*MEDICAL genetics
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Language
ISSN
1018-4813
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.