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Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi

Hafner, Christian and van Oers, Johanna M. M. and Vogt, Thomas and Landthaler, Michael and Stoehr, Robert and Blaszyk, Hagen and Hofstaedter, Ferdinand and Zwarthoff, Ellen C. and Hartmann, Arndt (2006) Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. The Journal of clinical investigation: JCI 116 (8), pp. 2201-2207.

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Abstract

Epidermal nevi are common congenital skin lesions with an incidence of 1 in 1,000 people; however, their genetic basis remains elusive. Germline mutations of the FGF receptor 3 (FGFR3) cause autosomal dominant skeletal disorders such as achondroplasia and thanatophoric dysplasia, which can be associated with acanthosis nigricans of the skin. Acanthosis nigricans and common epidermal nevi of the ...

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Item Type:Article
Date:2006
Institutions:Medicine > Lehrstuhl für Pathologie
Identification Number:
ValueType
11395371PubMed ID
10.1172/JCI28163DOI
Classification:
NotationType
AdolescentMESH
AdultMESH
Amino Acid SubstitutionMESH
ChildMESH
Child, PreschoolMESH
Codon/geneticsMESH
Epidermis/pathologyMESH
FemaleMESH
HumansMESH
InfantMESH
MaleMESH
MosaicismMESH
MutationMESH
Nevus/pathologyMESH
Nevus, Pigmented/pathologyMESH
Receptor, Fibroblast Growth Factor, Type 3/geneticsMESH
Skin Neoplasms/geneticsMESH
Subjects:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Unknown
Created at the University of Regensburg:Unknown
Owner: Gertraud Kellers
Deposited On:22 Jun 2010 09:55
Last Modified:22 Jun 2010 09:55
Item ID:15522
Owner Only: item control page
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