Matches in SemOpenAlex for { <https://semopenalex.org/work/W167366373> ?p ?o ?g. }
Showing items 1 to 77 of
77
with 100 items per page.
- W167366373 endingPage "8" @default.
- W167366373 startingPage "431" @default.
- W167366373 abstract "The authors describe the case of a child with craniofrontonasal syndrome (CFNS) (MIM 304110), the diagnostic process performed, the identification of the main clinical features in the proband (hypertelorism, facial asimmetry, bifid nasal tip, corpus callosum hypoplasia, broad thumb, curly and wiry hair), and the comparison with known data in literature. They also describe the detection, through gene sequencing of EFNB1, of responsible mutation and its correlation with the phenotypic variants. They explain the etiophatogenetic basis of the unusual inheritance pattern of CFNS: X-linked disease that occurs with greater severity in heterozygous females than hemizygous males. Finally, attention is placed on the need for careful genetic counseling for patients with CFNS, with special care in familial anamnesis taking. In the studied case, the presence of abnormalities of thumbs in the proband's mother and in two of her cousins, orientates principally toward a mutation of maternal origin or to a suspected somatic and germline mosaicism by creating a recurrence risk greater than general population. Because patients with CFNS reported in the literature are few, the AA consider that the observed case may help to improve understanding of the mechanisms of gene expression responsible for the syndrome, of its peculiar phenotypic manifestations and of its frequency in the population with known and easy to assign phenotypes, and possible mosaicisms that are difficult to detect." @default.
- W167366373 created "2016-06-24" @default.
- W167366373 creator A5001821805 @default.
- W167366373 creator A5056408334 @default.
- W167366373 creator A5068927524 @default.
- W167366373 creator A5088728702 @default.
- W167366373 creator A5091898734 @default.
- W167366373 date "2011-10-01" @default.
- W167366373 modified "2023-10-16" @default.
- W167366373 title "[Craniofrontonasal syndrome: genetic aspects and description of a clinical case]." @default.
- W167366373 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21946454" @default.
- W167366373 hasPublicationYear "2011" @default.
- W167366373 type Work @default.
- W167366373 sameAs 167366373 @default.
- W167366373 citedByCount "1" @default.
- W167366373 countsByYear W1673663732018 @default.
- W167366373 crossrefType "journal-article" @default.
- W167366373 hasAuthorship W167366373A5001821805 @default.
- W167366373 hasAuthorship W167366373A5056408334 @default.
- W167366373 hasAuthorship W167366373A5068927524 @default.
- W167366373 hasAuthorship W167366373A5088728702 @default.
- W167366373 hasAuthorship W167366373A5091898734 @default.
- W167366373 hasConcept C104317684 @default.
- W167366373 hasConcept C105702510 @default.
- W167366373 hasConcept C126322002 @default.
- W167366373 hasConcept C142724271 @default.
- W167366373 hasConcept C145333580 @default.
- W167366373 hasConcept C188997412 @default.
- W167366373 hasConcept C2778156654 @default.
- W167366373 hasConcept C2779286207 @default.
- W167366373 hasConcept C2780327212 @default.
- W167366373 hasConcept C2781083543 @default.
- W167366373 hasConcept C2908647359 @default.
- W167366373 hasConcept C501734568 @default.
- W167366373 hasConcept C54355233 @default.
- W167366373 hasConcept C71924100 @default.
- W167366373 hasConcept C80227256 @default.
- W167366373 hasConcept C86803240 @default.
- W167366373 hasConcept C99454951 @default.
- W167366373 hasConceptScore W167366373C104317684 @default.
- W167366373 hasConceptScore W167366373C105702510 @default.
- W167366373 hasConceptScore W167366373C126322002 @default.
- W167366373 hasConceptScore W167366373C142724271 @default.
- W167366373 hasConceptScore W167366373C145333580 @default.
- W167366373 hasConceptScore W167366373C188997412 @default.
- W167366373 hasConceptScore W167366373C2778156654 @default.
- W167366373 hasConceptScore W167366373C2779286207 @default.
- W167366373 hasConceptScore W167366373C2780327212 @default.
- W167366373 hasConceptScore W167366373C2781083543 @default.
- W167366373 hasConceptScore W167366373C2908647359 @default.
- W167366373 hasConceptScore W167366373C501734568 @default.
- W167366373 hasConceptScore W167366373C54355233 @default.
- W167366373 hasConceptScore W167366373C71924100 @default.
- W167366373 hasConceptScore W167366373C80227256 @default.
- W167366373 hasConceptScore W167366373C86803240 @default.
- W167366373 hasConceptScore W167366373C99454951 @default.
- W167366373 hasIssue "5" @default.
- W167366373 hasLocation W1673663731 @default.
- W167366373 hasOpenAccess W167366373 @default.
- W167366373 hasPrimaryLocation W1673663731 @default.
- W167366373 hasRelatedWork W167366373 @default.
- W167366373 hasRelatedWork W1978144872 @default.
- W167366373 hasRelatedWork W2001499728 @default.
- W167366373 hasRelatedWork W2269729942 @default.
- W167366373 hasRelatedWork W2368804682 @default.
- W167366373 hasRelatedWork W2756009492 @default.
- W167366373 hasRelatedWork W3118975915 @default.
- W167366373 hasRelatedWork W3136947500 @default.
- W167366373 hasRelatedWork W3173097825 @default.
- W167366373 hasRelatedWork W4200105762 @default.
- W167366373 hasVolume "63" @default.
- W167366373 isParatext "false" @default.
- W167366373 isRetracted "false" @default.
- W167366373 magId "167366373" @default.
- W167366373 workType "article" @default.