FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2007292268> ?p ?o ?g. }

• W2007292268 endingPage "673" @default.
• W2007292268 startingPage "665" @default.
• W2007292268 abstract "Costello syndrome (CS) and cardiofaciocutaneous syndrome (CFCS) are congenital disorders involving the Ras-MAPK pathway with phenotypic overlap. These two entities are thought to share common cutaneous findings, although so far they have been poorly studied. The objective of this prospective observational study was to describe the spectrum of skin findings in CS and CFCS and to highlight those specific to each of these two diseases. Patients with a confirmed diagnosis of CFCS or CS underwent a systematic skin examination during the annual workshop organized by the French CS association in 2007 and 2009 in Bordeaux, France. Eighteen patients were included in the study. Specific skin abnormalities, including cutis laxa, curly hair, pruritus, and hyperhidrosis, are shared by CFCS and CS, whereas others may help to differentiate between these two syndromes. Acanthosis nigricans, papillomas, and loose thick skin of the dorsum of the hands are characteristic of CS, whereas sparse eyebrows and dry hyperkeratotic skin are suggestive of CFCS. Our results highlight that a systematic cutaneous examination, in addition to dysmorphologic and noncutaneous anomalies, may be helpful in establishing the diagnosis of CFCS and CS. The physiopathologic link between constitutional Ras-MAPK pathway activation and the observed ectodermal findings remains to be investigated." @default.
• W2007292268 created "2016-06-24" @default.
• W2007292268 creator A5008664226 @default.
• W2007292268 creator A5012306919 @default.
• W2007292268 creator A5019499563 @default.
• W2007292268 creator A5036766007 @default.
• W2007292268 creator A5042296138 @default.
• W2007292268 creator A5047941451 @default.
• W2007292268 creator A5066775464 @default.
• W2007292268 creator A5081642866 @default.
• W2007292268 date "2013-11-01" @default.
• W2007292268 modified "2023-09-23" @default.
• W2007292268 title "Cutaneous Manifestations in Costello and Cardiofaciocutaneous Syndrome: Report of 18 Cases and Literature Review" @default.
• W2007292268 cites W1487917997 @default.
• W2007292268 cites W1960846834 @default.
• W2007292268 cites W1972449266 @default.
• W2007292268 cites W1988127794 @default.
• W2007292268 cites W1992747370 @default.
• W2007292268 cites W2008962261 @default.
• W2007292268 cites W2015467663 @default.
• W2007292268 cites W2020277419 @default.
• W2007292268 cites W2024648853 @default.
• W2007292268 cites W2027496090 @default.
• W2007292268 cites W2034113266 @default.
• W2007292268 cites W2039620798 @default.
• W2007292268 cites W2040261982 @default.
• W2007292268 cites W2044961658 @default.
• W2007292268 cites W2061393391 @default.
• W2007292268 cites W2070204715 @default.
• W2007292268 cites W2083114194 @default.
• W2007292268 cites W2089767357 @default.
• W2007292268 cites W2091765784 @default.
• W2007292268 cites W2095112712 @default.
• W2007292268 cites W2122473049 @default.
• W2007292268 cites W2139531608 @default.
• W2007292268 cites W2155503846 @default.
• W2007292268 cites W2168476395 @default.
• W2007292268 cites W2171529739 @default.
• W2007292268 doi "https://doi.org/10.1111/pde.12171" @default.
• W2007292268 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24283439" @default.
• W2007292268 hasPublicationYear "2013" @default.
• W2007292268 type Work @default.
• W2007292268 sameAs 2007292268 @default.
• W2007292268 citedByCount "32" @default.
• W2007292268 countsByYear W20072922682014 @default.
• W2007292268 countsByYear W20072922682015 @default.
• W2007292268 countsByYear W20072922682016 @default.
• W2007292268 countsByYear W20072922682017 @default.
• W2007292268 countsByYear W20072922682018 @default.
• W2007292268 countsByYear W20072922682019 @default.
• W2007292268 countsByYear W20072922682020 @default.
• W2007292268 countsByYear W20072922682021 @default.
• W2007292268 countsByYear W20072922682022 @default.
• W2007292268 countsByYear W20072922682023 @default.
• W2007292268 crossrefType "journal-article" @default.
• W2007292268 hasAuthorship W2007292268A5008664226 @default.
• W2007292268 hasAuthorship W2007292268A5012306919 @default.
• W2007292268 hasAuthorship W2007292268A5019499563 @default.
• W2007292268 hasAuthorship W2007292268A5036766007 @default.
• W2007292268 hasAuthorship W2007292268A5042296138 @default.
• W2007292268 hasAuthorship W2007292268A5047941451 @default.
• W2007292268 hasAuthorship W2007292268A5066775464 @default.
• W2007292268 hasAuthorship W2007292268A5081642866 @default.
• W2007292268 hasConcept C105702510 @default.
• W2007292268 hasConcept C121608353 @default.
• W2007292268 hasConcept C126322002 @default.
• W2007292268 hasConcept C140530291 @default.
• W2007292268 hasConcept C142724271 @default.
• W2007292268 hasConcept C16005928 @default.
• W2007292268 hasConcept C2777304866 @default.
• W2007292268 hasConcept C2777391703 @default.
• W2007292268 hasConcept C2777705978 @default.
• W2007292268 hasConcept C2778745941 @default.
• W2007292268 hasConcept C2779944767 @default.
• W2007292268 hasConcept C2781187634 @default.
• W2007292268 hasConcept C511355011 @default.
• W2007292268 hasConcept C526805850 @default.
• W2007292268 hasConcept C71924100 @default.
• W2007292268 hasConceptScore W2007292268C105702510 @default.
• W2007292268 hasConceptScore W2007292268C121608353 @default.
• W2007292268 hasConceptScore W2007292268C126322002 @default.
• W2007292268 hasConceptScore W2007292268C140530291 @default.
• W2007292268 hasConceptScore W2007292268C142724271 @default.
• W2007292268 hasConceptScore W2007292268C16005928 @default.
• W2007292268 hasConceptScore W2007292268C2777304866 @default.
• W2007292268 hasConceptScore W2007292268C2777391703 @default.
• W2007292268 hasConceptScore W2007292268C2777705978 @default.
• W2007292268 hasConceptScore W2007292268C2778745941 @default.
• W2007292268 hasConceptScore W2007292268C2779944767 @default.
• W2007292268 hasConceptScore W2007292268C2781187634 @default.
• W2007292268 hasConceptScore W2007292268C511355011 @default.
• W2007292268 hasConceptScore W2007292268C526805850 @default.
• W2007292268 hasConceptScore W2007292268C71924100 @default.
• W2007292268 hasIssue "6" @default.
• W2007292268 hasLocation W20072922681 @default.
• W2007292268 hasLocation W20072922682 @default.
• W2007292268 hasOpenAccess W2007292268 @default.
• W2007292268 hasPrimaryLocation W20072922681 @default.

• next