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- Title
Complete Maternal Isodisomy of Chromosome 5 in a Japanese Patient with Netherton Syndrome.
- Authors
Numata, Sanae; Hamada, Takahiro; Teye, Kwesi; Matsuda, Mitsuhiro; Ishii, Norito; Karashima, Tadashi; Kabashima, Kenji; Furumura, Minao; Ohata, Chika; Hashimoto, Takashi
- Abstract
The article focuses on a study of Netherton syndrome (NS), an autosomal recessive form of ichthyosis associated with mutations in the SPINK5 gene. Topics discussed include Uniparental disomy (UPD) case associated with duplication of chromosomes, UPD is of two types uniparental isodisomy and heterodisomy and symptoms of NS includes ichthyosiform erythroderma, atopic features. It also mentions that Polymorphism analysis of SPINK5 between intron 2 and intron 27.
- Subjects
ICHTHYOSIS; CHROMOSOME duplication; GENETIC mutation; CONGENITAL disorders; GENETIC polymorphisms
- Publication
Journal of Investigative Dermatology, 2014, Vol 134, Issue 3, p849
- ISSN
0022-202X
- Publication type
Article
- DOI
10.1038/jid.2013.398