Netherton syndrome showing a large clinical overlap with generalized inflammatory peeling skin syndrome

Farooq M.; Kurban M.; Abbas O.; Kibbi A.-G.; Fujimoto A.; Fujikawa H.; Shimomura Y.

dc.contributor.author	Farooq M.
dc.contributor.author	Kurban M.
dc.contributor.author	Abbas O.
dc.contributor.author	Kibbi A.-G.
dc.contributor.author	Fujimoto A.
dc.contributor.author	Fujikawa H.
dc.contributor.author	Shimomura Y.
dc.contributor.editor
dc.date	May-2012
dc.date.accessioned	2017-10-05T15:32:47Z
dc.date.available	2017-10-05T15:32:47Z
dc.date.issued	2012
dc.identifier	10.1684/ejd.2012.1720
dc.identifier.isbn
dc.identifier.issn	11671122
dc.identifier.uri	http://hdl.handle.net/10938/15388
dc.description.abstract	[No abstract available]
dc.format.extent
dc.format.extent	Pages: (412-413)
dc.language	English
dc.publisher	MONTROUGE
dc.relation.ispartof	Publication Name: European Journal of Dermatology; Publication Year: 2012; Volume: 22; no. 3; Pages: (412-413);
dc.relation.ispartofseries
dc.relation.uri
dc.source	Scopus
dc.subject.other
dc.title	Netherton syndrome showing a large clinical overlap with generalized inflammatory peeling skin syndrome
dc.type	Article
dc.contributor.affiliation	Farooq, M., Laboratory of Genetic Skin Diseases, Niigata University Medical School, 1-757 Asahimachi-dori, Chuo-ku, Niigata 951-8510, Japan
dc.contributor.affiliation	Kurban, M., Department of Dermatology, American University of Beirut, Beirut, Lebanon, Department of Biochemistry and molecular genetics, American University of Beirut, Beirut, Lebanon
dc.contributor.affiliation	Abbas, O., Department of Dermatology, American University of Beirut, Beirut, Lebanon
dc.contributor.affiliation	Kibbi, A.-G., Department of Dermatology, American University of Beirut, Beirut, Lebanon
dc.contributor.affiliation	Fujimoto, A., Laboratory of Genetic Skin Diseases, Niigata University Medical School, 1-757 Asahimachi-dori, Chuo-ku, Niigata 951-8510, Japan
dc.contributor.affiliation	Fujikawa, H., Laboratory of Genetic Skin Diseases, Niigata University Medical School, 1-757 Asahimachi-dori, Chuo-ku, Niigata 951-8510, Japan
dc.contributor.affiliation	Shimomura, Y., Laboratory of Genetic Skin Diseases, Niigata University Medical School, 1-757 Asahimachi-dori, Chuo-ku, Niigata 951-8510, Japan
dc.contributor.authorAddress	Shimomura, Y.; Laboratory of Genetic Skin Diseases, Niigata University Medical School, 1-757 Asahimachi-dori, Chuo-ku, Niigata 951-8510, Japan; email: yshimo@med.niigata-u.ac.j
dc.contributor.authorCorporate	University: American University of Beirut Medical Center; Faculty: Faculty of Medicine; Department: Dermatology;
dc.contributor.authorDepartment	Dermatology
dc.contributor.authorDivision
dc.contributor.authorEmail	yshimo@med.niigata-u.ac.j
dc.contributor.faculty	Faculty of Medicine
dc.contributor.authorInitials	Farooq, M
dc.contributor.authorInitials	Kurban, M
dc.contributor.authorInitials	Abbas, O
dc.contributor.authorInitials	Kibbi, AG
dc.contributor.authorInitials	Fujimoto, A
dc.contributor.authorInitials	Fujikawa, H
dc.contributor.authorInitials	Shimomura, Y
dc.contributor.authorOrcidID
dc.contributor.authorReprintAddress	Farooq, M (reprint author), Niigata Univ, Sch Med, Lab Genet Skin Dis, Chuo Ku, 1-757 Asahimachi Dori, Niigata 9518510, Japan.
dc.contributor.authorResearcherID
dc.contributor.authorUniversity	American University of Beirut Medical Center
dc.description.cited	Bitoun E, 2003, HUM MOL GENET, V12, P2417, DOI 10.1093-hmg-ddg247; Bitoun E, 2002, J INVEST DERMATOL, V118, P352, DOI 10.1046-j.1523-1747.2002.01603.x; Chavanas S, 2000, NAT GENET, V25, P141; Levy-Nissenbaum E, 2003, NAT GENET, V34, P151, DOI 10.1038-ng1163; Oji V, 2010, AM J HUM GENET, V87, P274, DOI 10.1016-j.ajhg.2010.07.005; Yang T, 2004, GENE DEV, V18, P2354, DOI 10.1101-gad.1232104
dc.description.citedCount	1
dc.description.citedTotWOSCount	1
dc.description.citedWOSCount	1
dc.format.extentCount	2
dc.identifier.articleNo
dc.identifier.coden	EJDEE
dc.identifier.pubmedID	22562784
dc.identifier.scopusID	84863188318
dc.identifier.url
dc.publisher.address	127 AVE DE LA REPUBLIQUE, 92120 MONTROUGE, FRANCE
dc.relation.ispartofConference
dc.relation.ispartofConferenceCode
dc.relation.ispartofConferenceDate
dc.relation.ispartofConferenceHosting
dc.relation.ispartofConferenceLoc
dc.relation.ispartofConferenceSponsor
dc.relation.ispartofConferenceTitle
dc.relation.ispartofFundingAgency
dc.relation.ispartOfISOAbbr	Eur. J. Dermatol.
dc.relation.ispartOfIssue	3
dc.relation.ispartOfPart
dc.relation.ispartofPubTitle	European Journal of Dermatology
dc.relation.ispartofPubTitleAbbr	Eur. J. Dermatol.
dc.relation.ispartOfSpecialIssue
dc.relation.ispartOfSuppl
dc.relation.ispartOfVolume	22
dc.source.ID	WOS:000305692400034
dc.type.publication	Journal
dc.subject.otherAuthKeyword
dc.subject.otherChemCAS	immunoglobulin E, 37341-29-0
dc.subject.otherChemCAS	Proteinase Inhibitory Proteins, Secretory
dc.subject.otherChemCAS	RNA Splice Sites
dc.subject.otherChemCAS	SPINK5 protein, human
dc.subject.otherIndex	genomic DNA
dc.subject.otherIndex	immunoglobulin E
dc.subject.otherIndex	adult
dc.subject.otherIndex	article
dc.subject.otherIndex	case report
dc.subject.otherIndex	CDSN gene
dc.subject.otherIndex	controlled study
dc.subject.otherIndex	desquamation
dc.subject.otherIndex	disease association
dc.subject.otherIndex	eosinophilia
dc.subject.otherIndex	erythema
dc.subject.otherIndex	gene
dc.subject.otherIndex	gene mutation
dc.subject.otherIndex	generalized inflammatory peeling skin syndrome
dc.subject.otherIndex	hair analysis
dc.subject.otherIndex	hair discoloration
dc.subject.otherIndex	homozygosity
dc.subject.otherIndex	human
dc.subject.otherIndex	hypotrichosis
dc.subject.otherIndex	immunoglobulin blood level
dc.subject.otherIndex	male
dc.subject.otherIndex	Netherton disease
dc.subject.otherIndex	premature graying hair
dc.subject.otherIndex	pruritus
dc.subject.otherIndex	sequence analysis
dc.subject.otherIndex	skin disease
dc.subject.otherIndex	skin pruritus
dc.subject.otherIndex	SPINK5 gene
dc.subject.otherIndex	Adult
dc.subject.otherIndex	Alopecia
dc.subject.otherIndex	Consanguinity
dc.subject.otherIndex	Dermatitis, Exfoliative
dc.subject.otherIndex	Hair Follicle
dc.subject.otherIndex	Humans
dc.subject.otherIndex	Male
dc.subject.otherIndex	Melanocytes
dc.subject.otherIndex	Netherton Syndrome
dc.subject.otherIndex	Proteinase Inhibitory Proteins, Secretory
dc.subject.otherIndex	RNA Splice Sites
dc.subject.otherKeywordPlus	CORNEODESMOSIN
dc.subject.otherKeywordPlus	MUTATIONS
dc.subject.otherKeywordPlus	EXPRESSION
dc.subject.otherKeywordPlus	DISEASE
dc.subject.otherKeywordPlus	SPINK5
dc.subject.otherWOS	Dermatology

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