Matches in SemOpenAlex for { <https://semopenalex.org/work/W2912174497> ?p ?o ?g. }
Showing items 1 to 94 of
94
with 100 items per page.
- W2912174497 endingPage "443" @default.
- W2912174497 startingPage "439" @default.
- W2912174497 abstract "Osteopetrosis is a rare genetic disease characterized by increased bone density and bone fractures due to defective osteoclast function. Autosomal dominant osteopetrosis type 2 (ADO-2), Albers-Schonberg disease, is characterized by the sclerosis of bones, predominantly involving the spine, pelvis and the base of the skull. Here, we report a typical case of osteopetrosis in a 17.7-year-old male who carries a heterozygous c.746C>T mutation in exon 9 in the chloride voltage-gated channel 7 (CLCN7) gene. The patient’s spine showed multiple sclerotic changes including sandwich vertebra. His father had the same mutation but his skeletal radiographs were normal. This is the first reported case of ADO-2, confirmed by genetic testing in a Korean patient." @default.
- W2912174497 created "2019-02-21" @default.
- W2912174497 creator A5001514087 @default.
- W2912174497 creator A5047991608 @default.
- W2912174497 creator A5077093336 @default.
- W2912174497 creator A5081486799 @default.
- W2912174497 creator A5083833605 @default.
- W2912174497 date "2019-12-01" @default.
- W2912174497 modified "2023-10-10" @default.
- W2912174497 title "A Case of Autosomal Dominant Osteopetrosis Type 2 with a <i>CLCN7</i> Gene Mutation" @default.
- W2912174497 cites W1986516953 @default.
- W2912174497 cites W2000014583 @default.
- W2912174497 cites W2011823780 @default.
- W2912174497 cites W2017585095 @default.
- W2912174497 cites W2051997551 @default.
- W2912174497 cites W2058049455 @default.
- W2912174497 cites W2087869826 @default.
- W2912174497 cites W2108330312 @default.
- W2912174497 cites W2140060849 @default.
- W2912174497 cites W2148797695 @default.
- W2912174497 cites W2151139034 @default.
- W2912174497 cites W2158119213 @default.
- W2912174497 cites W2416136202 @default.
- W2912174497 cites W2597260089 @default.
- W2912174497 cites W2917301833 @default.
- W2912174497 cites W3187932017 @default.
- W2912174497 doi "https://doi.org/10.4274/jcrpe.galenos.2019.2018.0229" @default.
- W2912174497 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6878338" @default.
- W2912174497 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30759959" @default.
- W2912174497 hasPublicationYear "2019" @default.
- W2912174497 type Work @default.
- W2912174497 sameAs 2912174497 @default.
- W2912174497 citedByCount "3" @default.
- W2912174497 countsByYear W29121744972020 @default.
- W2912174497 countsByYear W29121744972022 @default.
- W2912174497 crossrefType "journal-article" @default.
- W2912174497 hasAuthorship W2912174497A5001514087 @default.
- W2912174497 hasAuthorship W2912174497A5047991608 @default.
- W2912174497 hasAuthorship W2912174497A5077093336 @default.
- W2912174497 hasAuthorship W2912174497A5081486799 @default.
- W2912174497 hasAuthorship W2912174497A5083833605 @default.
- W2912174497 hasBestOaLocation W29121744971 @default.
- W2912174497 hasConcept C104317684 @default.
- W2912174497 hasConcept C105702510 @default.
- W2912174497 hasConcept C126322002 @default.
- W2912174497 hasConcept C142724271 @default.
- W2912174497 hasConcept C170493617 @default.
- W2912174497 hasConcept C2776033226 @default.
- W2912174497 hasConcept C2777479973 @default.
- W2912174497 hasConcept C2779300802 @default.
- W2912174497 hasConcept C2781078528 @default.
- W2912174497 hasConcept C36823959 @default.
- W2912174497 hasConcept C501734568 @default.
- W2912174497 hasConcept C54355233 @default.
- W2912174497 hasConcept C71924100 @default.
- W2912174497 hasConcept C86803240 @default.
- W2912174497 hasConceptScore W2912174497C104317684 @default.
- W2912174497 hasConceptScore W2912174497C105702510 @default.
- W2912174497 hasConceptScore W2912174497C126322002 @default.
- W2912174497 hasConceptScore W2912174497C142724271 @default.
- W2912174497 hasConceptScore W2912174497C170493617 @default.
- W2912174497 hasConceptScore W2912174497C2776033226 @default.
- W2912174497 hasConceptScore W2912174497C2777479973 @default.
- W2912174497 hasConceptScore W2912174497C2779300802 @default.
- W2912174497 hasConceptScore W2912174497C2781078528 @default.
- W2912174497 hasConceptScore W2912174497C36823959 @default.
- W2912174497 hasConceptScore W2912174497C501734568 @default.
- W2912174497 hasConceptScore W2912174497C54355233 @default.
- W2912174497 hasConceptScore W2912174497C71924100 @default.
- W2912174497 hasConceptScore W2912174497C86803240 @default.
- W2912174497 hasIssue "4" @default.
- W2912174497 hasLocation W29121744971 @default.
- W2912174497 hasLocation W29121744972 @default.
- W2912174497 hasLocation W29121744973 @default.
- W2912174497 hasLocation W29121744974 @default.
- W2912174497 hasOpenAccess W2912174497 @default.
- W2912174497 hasPrimaryLocation W29121744971 @default.
- W2912174497 hasRelatedWork W1978519211 @default.
- W2912174497 hasRelatedWork W2062409761 @default.
- W2912174497 hasRelatedWork W2064008517 @default.
- W2912174497 hasRelatedWork W2086814759 @default.
- W2912174497 hasRelatedWork W2106015885 @default.
- W2912174497 hasRelatedWork W2405052837 @default.
- W2912174497 hasRelatedWork W2422447379 @default.
- W2912174497 hasRelatedWork W2886136822 @default.
- W2912174497 hasRelatedWork W2471881877 @default.
- W2912174497 hasRelatedWork W2799402627 @default.
- W2912174497 hasVolume "11" @default.
- W2912174497 isParatext "false" @default.
- W2912174497 isRetracted "false" @default.
- W2912174497 magId "2912174497" @default.
- W2912174497 workType "article" @default.