Matches in SemOpenAlex for { <https://semopenalex.org/work/W2888930448> ?p ?o ?g. }
Showing items 1 to 100 of
100
with 100 items per page.
- W2888930448 endingPage "2324" @default.
- W2888930448 startingPage "2318" @default.
- W2888930448 abstract "Incontinentia Pigmenti (IP) is an X‐linked rare genodermatosis caused by mutations in the IKBKG gene, which is essential to NF‐κB pathway activation and thus fundamental for cell survival. Our objective was to study the intrafamilial clinical variability in IP by investigating how the signs of IP, and especially dental anomalies, vary within affected families. Four families, encompassing a total of 15 IP familial cases, were included in the study. The patients were subjected to clinical examination and collection of family histories for assessment of intrafamilial clinical variability. All familial cases carried the IKBKG del recurrent deletion. A noticeable intrafamilial clinical variability was observed in all studied families, with mild and severe cases co‐occurring within a same family. Additionally, to best of our knowledge, our study was the first to address the variability of dental defects within IP families, and here too, our results reveal remarkable differences among affected relatives. A number of as yet unidentified genes might act as modifiers, influencing disease expressivity. Our study found important clinical variability within four IP families and contributes to the understanding of the genetic background involved in IP expressivity." @default.
- W2888930448 created "2018-09-07" @default.
- W2888930448 creator A5020731620 @default.
- W2888930448 creator A5022578722 @default.
- W2888930448 creator A5033125558 @default.
- W2888930448 creator A5037152458 @default.
- W2888930448 creator A5038524411 @default.
- W2888930448 creator A5068708012 @default.
- W2888930448 creator A5070041790 @default.
- W2888930448 creator A5078433904 @default.
- W2888930448 date "2018-08-27" @default.
- W2888930448 modified "2023-09-25" @default.
- W2888930448 title "Intrafamilial clinical variability in four families with incontinentia pigmenti" @default.
- W2888930448 cites W1629078953 @default.
- W2888930448 cites W1930056247 @default.
- W2888930448 cites W2011549454 @default.
- W2888930448 cites W2014941304 @default.
- W2888930448 cites W2042911356 @default.
- W2888930448 cites W2053924961 @default.
- W2888930448 cites W2065108572 @default.
- W2888930448 cites W2066839653 @default.
- W2888930448 cites W2069466554 @default.
- W2888930448 cites W2071815015 @default.
- W2888930448 cites W2097254104 @default.
- W2888930448 cites W2098574858 @default.
- W2888930448 cites W2106997984 @default.
- W2888930448 cites W2115911174 @default.
- W2888930448 cites W2116728509 @default.
- W2888930448 cites W2117279277 @default.
- W2888930448 cites W2121493157 @default.
- W2888930448 cites W2133092947 @default.
- W2888930448 cites W2141772350 @default.
- W2888930448 cites W2142058147 @default.
- W2888930448 cites W2142571285 @default.
- W2888930448 cites W2171656947 @default.
- W2888930448 cites W2437712840 @default.
- W2888930448 cites W2536823934 @default.
- W2888930448 cites W585584038 @default.
- W2888930448 doi "https://doi.org/10.1002/ajmg.a.40497" @default.
- W2888930448 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30151858" @default.
- W2888930448 hasPublicationYear "2018" @default.
- W2888930448 type Work @default.
- W2888930448 sameAs 2888930448 @default.
- W2888930448 citedByCount "6" @default.
- W2888930448 countsByYear W28889304482019 @default.
- W2888930448 countsByYear W28889304482020 @default.
- W2888930448 countsByYear W28889304482022 @default.
- W2888930448 countsByYear W28889304482023 @default.
- W2888930448 crossrefType "journal-article" @default.
- W2888930448 hasAuthorship W2888930448A5020731620 @default.
- W2888930448 hasAuthorship W2888930448A5022578722 @default.
- W2888930448 hasAuthorship W2888930448A5033125558 @default.
- W2888930448 hasAuthorship W2888930448A5037152458 @default.
- W2888930448 hasAuthorship W2888930448A5038524411 @default.
- W2888930448 hasAuthorship W2888930448A5068708012 @default.
- W2888930448 hasAuthorship W2888930448A5070041790 @default.
- W2888930448 hasAuthorship W2888930448A5078433904 @default.
- W2888930448 hasConcept C104317684 @default.
- W2888930448 hasConcept C142724271 @default.
- W2888930448 hasConcept C2778156654 @default.
- W2888930448 hasConcept C2779134260 @default.
- W2888930448 hasConcept C2780668358 @default.
- W2888930448 hasConcept C54355233 @default.
- W2888930448 hasConcept C64474127 @default.
- W2888930448 hasConcept C71924100 @default.
- W2888930448 hasConcept C86803240 @default.
- W2888930448 hasConcept C92811239 @default.
- W2888930448 hasConceptScore W2888930448C104317684 @default.
- W2888930448 hasConceptScore W2888930448C142724271 @default.
- W2888930448 hasConceptScore W2888930448C2778156654 @default.
- W2888930448 hasConceptScore W2888930448C2779134260 @default.
- W2888930448 hasConceptScore W2888930448C2780668358 @default.
- W2888930448 hasConceptScore W2888930448C54355233 @default.
- W2888930448 hasConceptScore W2888930448C64474127 @default.
- W2888930448 hasConceptScore W2888930448C71924100 @default.
- W2888930448 hasConceptScore W2888930448C86803240 @default.
- W2888930448 hasConceptScore W2888930448C92811239 @default.
- W2888930448 hasFunder F4320322025 @default.
- W2888930448 hasIssue "11" @default.
- W2888930448 hasLocation W28889304481 @default.
- W2888930448 hasLocation W28889304482 @default.
- W2888930448 hasOpenAccess W2888930448 @default.
- W2888930448 hasPrimaryLocation W28889304481 @default.
- W2888930448 hasRelatedWork W1984928232 @default.
- W2888930448 hasRelatedWork W2008290453 @default.
- W2888930448 hasRelatedWork W2048373844 @default.
- W2888930448 hasRelatedWork W2057126451 @default.
- W2888930448 hasRelatedWork W2114417421 @default.
- W2888930448 hasRelatedWork W2118643098 @default.
- W2888930448 hasRelatedWork W2412968475 @default.
- W2888930448 hasRelatedWork W2888930448 @default.
- W2888930448 hasRelatedWork W2924419645 @default.
- W2888930448 hasRelatedWork W2113956110 @default.
- W2888930448 hasVolume "176" @default.
- W2888930448 isParatext "false" @default.
- W2888930448 isRetracted "false" @default.
- W2888930448 magId "2888930448" @default.
- W2888930448 workType "article" @default.