Matches in SemOpenAlex for { <https://semopenalex.org/work/W1590072457> ?p ?o ?g. }
Showing items 1 to 89 of
89
with 100 items per page.
- W1590072457 endingPage "354" @default.
- W1590072457 startingPage "351" @default.
- W1590072457 abstract "Abstract Background Diagnosis of Nevoid Basal Cell Carcinoma Syndrome (NBCCS) in infants may pose significant challenges to clinicians owing to its variable expressivity and age‐related manifestations. Methods We report two paediatric cases of NBCCS who presented initially with a non‐specific phenotype. Results In case 1, a diagnosis of NBCCS was possible only after the father was interviewed and found to present with two major criteria for the disease. Subsequent molecular testing confirmed the diagnosis. In case 2, molecular testing of the infant and his father had diagnostic value as neither satisfied fully the current diagnostic criteria for NBCCS. Conclusions Presence of the few clinical manifestations of NBCCS that appear in infants, typically congenital malformations and skeletal abnormalities, should prompt clinicians to conduct in‐person interviews with both parents. In general, paediatricians should refer both parents of infants who are suspected of having an inherited condition to clinical geneticists for expert examination, given the potential unreliability of reported medical history." @default.
- W1590072457 created "2016-06-24" @default.
- W1590072457 creator A5009820709 @default.
- W1590072457 creator A5025473720 @default.
- W1590072457 creator A5027322115 @default.
- W1590072457 creator A5032878733 @default.
- W1590072457 creator A5036113023 @default.
- W1590072457 creator A5037962041 @default.
- W1590072457 creator A5075469485 @default.
- W1590072457 creator A5076189755 @default.
- W1590072457 creator A5088653335 @default.
- W1590072457 creator A5089552352 @default.
- W1590072457 date "2005-04-11" @default.
- W1590072457 modified "2023-10-18" @default.
- W1590072457 title "Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis" @default.
- W1590072457 cites W1596473475 @default.
- W1590072457 cites W1984459324 @default.
- W1590072457 cites W2017309361 @default.
- W1590072457 cites W2049727086 @default.
- W1590072457 cites W2078280461 @default.
- W1590072457 cites W2111977040 @default.
- W1590072457 cites W2127001212 @default.
- W1590072457 cites W4246368996 @default.
- W1590072457 doi "https://doi.org/10.1111/j.1365-2214.2005.00514.x" @default.
- W1590072457 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15840155" @default.
- W1590072457 hasPublicationYear "2005" @default.
- W1590072457 type Work @default.
- W1590072457 sameAs 1590072457 @default.
- W1590072457 citedByCount "10" @default.
- W1590072457 countsByYear W15900724572012 @default.
- W1590072457 countsByYear W15900724572013 @default.
- W1590072457 countsByYear W15900724572014 @default.
- W1590072457 crossrefType "journal-article" @default.
- W1590072457 hasAuthorship W1590072457A5009820709 @default.
- W1590072457 hasAuthorship W1590072457A5025473720 @default.
- W1590072457 hasAuthorship W1590072457A5027322115 @default.
- W1590072457 hasAuthorship W1590072457A5032878733 @default.
- W1590072457 hasAuthorship W1590072457A5036113023 @default.
- W1590072457 hasAuthorship W1590072457A5037962041 @default.
- W1590072457 hasAuthorship W1590072457A5075469485 @default.
- W1590072457 hasAuthorship W1590072457A5076189755 @default.
- W1590072457 hasAuthorship W1590072457A5088653335 @default.
- W1590072457 hasAuthorship W1590072457A5089552352 @default.
- W1590072457 hasConcept C126838900 @default.
- W1590072457 hasConcept C142724271 @default.
- W1590072457 hasConcept C187212893 @default.
- W1590072457 hasConcept C206179267 @default.
- W1590072457 hasConcept C2776315809 @default.
- W1590072457 hasConcept C2778804307 @default.
- W1590072457 hasConcept C2779134260 @default.
- W1590072457 hasConcept C2983449737 @default.
- W1590072457 hasConcept C3019992690 @default.
- W1590072457 hasConcept C527108885 @default.
- W1590072457 hasConcept C534262118 @default.
- W1590072457 hasConcept C71924100 @default.
- W1590072457 hasConceptScore W1590072457C126838900 @default.
- W1590072457 hasConceptScore W1590072457C142724271 @default.
- W1590072457 hasConceptScore W1590072457C187212893 @default.
- W1590072457 hasConceptScore W1590072457C206179267 @default.
- W1590072457 hasConceptScore W1590072457C2776315809 @default.
- W1590072457 hasConceptScore W1590072457C2778804307 @default.
- W1590072457 hasConceptScore W1590072457C2779134260 @default.
- W1590072457 hasConceptScore W1590072457C2983449737 @default.
- W1590072457 hasConceptScore W1590072457C3019992690 @default.
- W1590072457 hasConceptScore W1590072457C527108885 @default.
- W1590072457 hasConceptScore W1590072457C534262118 @default.
- W1590072457 hasConceptScore W1590072457C71924100 @default.
- W1590072457 hasIssue "3" @default.
- W1590072457 hasLocation W15900724571 @default.
- W1590072457 hasLocation W15900724572 @default.
- W1590072457 hasOpenAccess W1590072457 @default.
- W1590072457 hasPrimaryLocation W15900724571 @default.
- W1590072457 hasRelatedWork W1980008546 @default.
- W1590072457 hasRelatedWork W1995124650 @default.
- W1590072457 hasRelatedWork W1995752498 @default.
- W1590072457 hasRelatedWork W2245747428 @default.
- W1590072457 hasRelatedWork W2436183344 @default.
- W1590072457 hasRelatedWork W2945701431 @default.
- W1590072457 hasRelatedWork W3128066833 @default.
- W1590072457 hasRelatedWork W4206687253 @default.
- W1590072457 hasRelatedWork W4386698201 @default.
- W1590072457 hasRelatedWork W1654315997 @default.
- W1590072457 hasVolume "31" @default.
- W1590072457 isParatext "false" @default.
- W1590072457 isRetracted "false" @default.
- W1590072457 magId "1590072457" @default.
- W1590072457 workType "article" @default.