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Article: A novel locus of ectodermal dysplasia maps to chromosome 10q24.32-q25.1

TitleA novel locus of ectodermal dysplasia maps to chromosome 10q24.32-q25.1
Authors
Keywords10q24.32-q25.1
Autosomal recessive
Ectodermal dysplasia
Pakistan
Issue Date2005
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/jid/index.html
Citation
Journal Of Investigative Dermatology, 2005, v. 124 n. 2, p. 338-342 How to Cite?
AbstractEctodermal dysplasia (ED) represents a heterogeneous group of genetic disorders characterized by the absence or deformity in two or more of the ectodermal appendages. We have studied an autosomal recessive form of ED in 13 individuals over six generations from an inbred Pakistani family. The clinical features of the affected individuals include highly dystrophic nails and thin hair on scalp, fine eyebrows and eyelashes, and thin body hair. Genome-wide linkage analysis of 390 microsatellite markers mapped the ED gene to the 3.92 cM interval flanked by markers D10S1710 and D10S1741 on chromosome 10q24.32-q25.1. Multipoint linkage analysis generated a maximum logarithm of odds ratio score of 4.79 in the interval D10S1239-D10S1264, which corresponds to 6.35 Mb.
Persistent Identifierhttp://hdl.handle.net/10722/44393
ISSN
2015 Impact Factor: 6.915
2015 SCImago Journal Rankings: 2.612
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorRafiq, MAen_HK
dc.contributor.authorFaiyazulHaque, Men_HK
dc.contributor.authorUd Din, MAen_HK
dc.contributor.authorMalik, Sen_HK
dc.contributor.authorSohail, Men_HK
dc.contributor.authorAnwar, Men_HK
dc.contributor.authorHaque, Sen_HK
dc.contributor.authorPaterson, ADen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorAhmad, Wen_HK
dc.date.accessioned2007-09-12T03:52:40Z-
dc.date.available2007-09-12T03:52:40Z-
dc.date.issued2005en_HK
dc.identifier.citationJournal Of Investigative Dermatology, 2005, v. 124 n. 2, p. 338-342en_HK
dc.identifier.issn0022-202Xen_HK
dc.identifier.urihttp://hdl.handle.net/10722/44393-
dc.description.abstractEctodermal dysplasia (ED) represents a heterogeneous group of genetic disorders characterized by the absence or deformity in two or more of the ectodermal appendages. We have studied an autosomal recessive form of ED in 13 individuals over six generations from an inbred Pakistani family. The clinical features of the affected individuals include highly dystrophic nails and thin hair on scalp, fine eyebrows and eyelashes, and thin body hair. Genome-wide linkage analysis of 390 microsatellite markers mapped the ED gene to the 3.92 cM interval flanked by markers D10S1710 and D10S1741 on chromosome 10q24.32-q25.1. Multipoint linkage analysis generated a maximum logarithm of odds ratio score of 4.79 in the interval D10S1239-D10S1264, which corresponds to 6.35 Mb.en_HK
dc.languageengen_HK
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/jid/index.htmlen_HK
dc.relation.ispartofJournal of Investigative Dermatologyen_HK
dc.subject10q24.32-q25.1en_HK
dc.subjectAutosomal recessiveen_HK
dc.subjectEctodermal dysplasiaen_HK
dc.subjectPakistanen_HK
dc.subject.meshAutosomal recessiveen_HK
dc.subject.meshEctodermal dysplasiaen_HK
dc.subject.meshPakistanen_HK
dc.subject.mesh10q24.32–q25.1en_HK
dc.subject.meshChromosomes, human, pair 10en_HK
dc.titleA novel locus of ectodermal dysplasia maps to chromosome 10q24.32-q25.1en_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0022-202X&volume=124&issue=2&spage=338&epage=342&date=2005&atitle=A+novel+locus+of+ectodermal+dysplasia+maps+to+chromosome+10q24.32-q25.1en_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_OA_fulltext-
dc.identifier.doi10.1111/j.0022-202X.2004.23594.xen_HK
dc.identifier.pmid15675952-
dc.identifier.scopuseid_2-s2.0-19944434247en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-19944434247&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume124en_HK
dc.identifier.issue2en_HK
dc.identifier.spage338en_HK
dc.identifier.epage342en_HK
dc.identifier.isiWOS:000226674500009-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridRafiq, MA=36028736900en_HK
dc.identifier.scopusauthoridFaiyazulHaque, M=55394583700en_HK
dc.identifier.scopusauthoridUd Din, MA=14120403600en_HK
dc.identifier.scopusauthoridMalik, S=7402973331en_HK
dc.identifier.scopusauthoridSohail, M=7003283752en_HK
dc.identifier.scopusauthoridAnwar, M=36520733300en_HK
dc.identifier.scopusauthoridHaque, S=7102339121en_HK
dc.identifier.scopusauthoridPaterson, AD=7202360951en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridAhmad, W=7006313694en_HK
dc.identifier.citeulike81693-

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