Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2005-6-8
pubmed:abstractText
Netherton syndrome (NTS) is a rare autosomal recessive multisystem disorder characterized by congenital erythroderma and ichthyosis, hair shaft abnormalities and immune dysregulation. The disorder is caused by deleterious mutations in the SPINK5 gene, encoding the serine protease inhibitor LEKTI.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1018-8665
pubmed:author
pubmed:copyrightInfo
2005 S. Karger AG, Basel
pubmed:issnType
Print
pubmed:volume
210
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
308-14
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed-meshheading:15942217-Biopsy, Needle, pubmed-meshheading:15942217-DNA Mutational Analysis, pubmed-meshheading:15942217-Failure to Thrive, pubmed-meshheading:15942217-Follow-Up Studies, pubmed-meshheading:15942217-Frameshift Mutation, pubmed-meshheading:15942217-Genetic Predisposition to Disease, pubmed-meshheading:15942217-Hair Diseases, pubmed-meshheading:15942217-Humans, pubmed-meshheading:15942217-Ichthyosiform Erythroderma, Congenital, pubmed-meshheading:15942217-Immunohistochemistry, pubmed-meshheading:15942217-Infant, pubmed-meshheading:15942217-Magnetic Resonance Imaging, pubmed-meshheading:15942217-Male, pubmed-meshheading:15942217-Polymerase Chain Reaction, pubmed-meshheading:15942217-Serine Proteinase Inhibitors, pubmed-meshheading:15942217-Severity of Illness Index, pubmed-meshheading:15942217-Syndrome
pubmed:year
2005
pubmed:articleTitle
Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5.
pubmed:affiliation
Department of Dermatology, Columbia University Medical Center, Columbia University, New York, NY, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports, Research Support, N.I.H., Extramural