Dermatological findings in 61 mutation‐positive individuals with cardiofaciocutaneous syndrome
Identifieur interne : 005336 ( Main/Exploration ); précédent : 005335; suivant : 005337Dermatological findings in 61 mutation‐positive individuals with cardiofaciocutaneous syndrome
Auteurs : D. H. Siegel [États-Unis] ; J. Mckenzie [États-Unis] ; I. J. Frieden [États-Unis] ; K. A. Rauen [États-Unis]Source :
- British Journal of Dermatology [ 0007-0963 ] ; 2011-03.
Abstract
Background The RASopathies are a class of human genetic syndromes that are caused by germline mutations in genes which encode components of the Ras/mitogen‐activated protein kinase (MAPK) pathway. Cardiofaciocutaneous (CFC) syndrome is characterized by distinctive craniofacial features, congenital heart defects, and abnormalities of the skin and hair.
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DOI: 10.1111/j.1365-2133.2010.10122.x
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H." last="Siegel">D. H. Siegel</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Dermatology and Pediatrics, Oregon Health and Science University, Portland, OR</wicri:regionArea><placeName><region type="state">Oregon</region></placeName></affiliation></author><author><name sortKey="Mckenzie, J" sort="Mckenzie, J" uniqKey="Mckenzie J" first="J." last="Mckenzie">J. Mckenzie</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Dermatology, University of Washington Medical Center, Seattle, WA</wicri:regionArea><placeName><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Frieden, I J" sort="Frieden, I J" uniqKey="Frieden I" first="I. J." last="Frieden">I. J. Frieden</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Dermatology and Pediatrics, University of California San Francisco, San Francisco, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Rauen, K A" sort="Rauen, K A" uniqKey="Rauen K" first="K. A." last="Rauen">K. A. Rauen</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of California San Francisco, San Francisco, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">British Journal of Dermatology</title><title level="j" type="alt">BRITISH JOURNAL OF DERMATOLOGY</title><idno type="ISSN">0007-0963</idno><idno type="eISSN">1365-2133</idno><imprint><biblScope unit="vol">164</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="521">521</biblScope><biblScope unit="page" to="529">529</biblScope><biblScope unit="page-count">9</biblScope><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2011-03">2011-03</date></imprint><idno type="ISSN">0007-0963</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0007-0963</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract">Background The RASopathies are a class of human genetic syndromes that are caused by germline mutations in genes which encode components of the Ras/mitogen‐activated protein kinase (MAPK) pathway. Cardiofaciocutaneous (CFC) syndrome is characterized by distinctive craniofacial features, congenital heart defects, and abnormalities of the skin and hair.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Californie</li><li>Oregon</li><li>Washington (État)</li></region></list><tree><country name="États-Unis"><region name="Oregon"><name sortKey="Siegel, D H" sort="Siegel, D H" uniqKey="Siegel D" first="D. H." last="Siegel">D. H. Siegel</name></region><name sortKey="Frieden, I J" sort="Frieden, I J" uniqKey="Frieden I" first="I. J." last="Frieden">I. J. Frieden</name><name sortKey="Mckenzie, J" sort="Mckenzie, J" uniqKey="Mckenzie J" first="J." last="Mckenzie">J. Mckenzie</name><name sortKey="Rauen, K A" sort="Rauen, K A" uniqKey="Rauen K" first="K. A." last="Rauen">K. A. Rauen</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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