학술논문
Netherton syndrome with chromosome 16p11.2 microduplication in a Chinese infant.
Document Type
Article
Author
Source
Subject
*CHROMOSOMES
*INFANTS
*SYNDROMES
*MILK allergy
*EAR canal
*INFANT diseases
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Language
ISSN
0011-9059
Abstract
Dear Editor, Netherton syndrome (NS) is a rare genetic disease characterized by congenital ichthyosiform erythroderma, hair shaft abnormalities, and immune dysregulation. Peripheral blood exon sequencing showed a compound heterozygous mutation of I SPINK5 i including missense mutation of c.2423C>T (p.T808I) in exon 25 and missense mutation of c.603-1G>A in intron 7. Chromosome analysis was also performed and showed a 524.85 kb microduplication in the p11.2 region of chromosome 16 (Fig. [Extracted from the article]