FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2968053018> ?p ?o ?g. }

• W2968053018 endingPage "e383" @default.
• W2968053018 startingPage "e380" @default.
• W2968053018 abstract "Individuals with 46,XY complete gonadal dysgenesis (CGD) are at high risk of developing gonadal neoplasms. Chromosome 9p monosomy with deletion of the DMRT1 gene, a key transcription factor in testicular development, is one of the known causes of 46,XY CGD. Noninvasive prenatal testing (NIPT) is being increasingly used, and can identify disorders of sexual development (DSDs).We report the case of a 46,XY infant with phenotypically female external genitalia, müllerian structures including uterus and fallopian tubes, and bilateral streak gonads who was found to have unilateral gonadoblastoma at 13 months. 46,XY DSD was suggested prenatally when discordance between NIPT and fetal ultrasound was noted.Genetic investigation revealed a deletion of 12.5 million base pairs at chromosome 9p24.3, which includes the doublesex and MAB-3-related transcription factor-1 (DMRT1) gene.Current guidelines recommend gonadectomy at the time of diagnosis in cases of 46,XY CGD, and our patient had gonadoblastoma at 13 months. 46,XY DSD, including rare disorders such as CGD, will be increasingly identified before birth with more widespread use of NIPT, raising the question about the appropriate timing of gonadectomy in prenatal diagnoses. Our case supports the current recommendation to perform gonadectomy as early as possible after diagnosis." @default.
• W2968053018 created "2019-08-22" @default.
• W2968053018 creator A5005894454 @default.
• W2968053018 creator A5010293619 @default.
• W2968053018 creator A5023716581 @default.
• W2968053018 creator A5039156033 @default.
• W2968053018 creator A5067124185 @default.
• W2968053018 creator A5069511482 @default.
• W2968053018 date "2019-11-01" @default.
• W2968053018 modified "2023-10-16" @default.
• W2968053018 title "Early-Onset Gonadoblastoma in a 13-Month-Old Infant with 46,XY Complete Gonadal Dysgenesis Identified with Prenatal Testing: A Case of Chromosome 9P Deletion" @default.
• W2968053018 cites W1552328918 @default.
• W2968053018 cites W1964576254 @default.
• W2968053018 cites W1983918903 @default.
• W2968053018 cites W1998033340 @default.
• W2968053018 cites W2046084270 @default.
• W2968053018 cites W2047647680 @default.
• W2968053018 cites W2054268095 @default.
• W2968053018 cites W2076457694 @default.
• W2968053018 cites W2089076449 @default.
• W2968053018 cites W2102713006 @default.
• W2968053018 cites W2137286384 @default.
• W2968053018 cites W2142669398 @default.
• W2968053018 cites W2144810523 @default.
• W2968053018 cites W2485046853 @default.
• W2968053018 cites W2515885422 @default.
• W2968053018 cites W2556577575 @default.
• W2968053018 cites W2771053502 @default.
• W2968053018 cites W4251245750 @default.
• W2968053018 doi "https://doi.org/10.4158/accr-2019-0285" @default.
• W2968053018 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6873848" @default.
• W2968053018 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31967076" @default.
• W2968053018 hasPublicationYear "2019" @default.
• W2968053018 type Work @default.
• W2968053018 sameAs 2968053018 @default.
• W2968053018 citedByCount "3" @default.
• W2968053018 countsByYear W29680530182022 @default.
• W2968053018 crossrefType "journal-article" @default.
• W2968053018 hasAuthorship W2968053018A5005894454 @default.
• W2968053018 hasAuthorship W2968053018A5010293619 @default.
• W2968053018 hasAuthorship W2968053018A5023716581 @default.
• W2968053018 hasAuthorship W2968053018A5039156033 @default.
• W2968053018 hasAuthorship W2968053018A5067124185 @default.
• W2968053018 hasAuthorship W2968053018A5069511482 @default.
• W2968053018 hasBestOaLocation W29680530181 @default.
• W2968053018 hasConcept C104317684 @default.
• W2968053018 hasConcept C126322002 @default.
• W2968053018 hasConcept C172680121 @default.
• W2968053018 hasConcept C2778258057 @default.
• W2968053018 hasConcept C2778324535 @default.
• W2968053018 hasConcept C2779234561 @default.
• W2968053018 hasConcept C2779272188 @default.
• W2968053018 hasConcept C2780246931 @default.
• W2968053018 hasConcept C2781037291 @default.
• W2968053018 hasConcept C29456083 @default.
• W2968053018 hasConcept C30481170 @default.
• W2968053018 hasConcept C53226629 @default.
• W2968053018 hasConcept C54355233 @default.
• W2968053018 hasConcept C71924100 @default.
• W2968053018 hasConcept C73456138 @default.
• W2968053018 hasConcept C86803240 @default.
• W2968053018 hasConceptScore W2968053018C104317684 @default.
• W2968053018 hasConceptScore W2968053018C126322002 @default.
• W2968053018 hasConceptScore W2968053018C172680121 @default.
• W2968053018 hasConceptScore W2968053018C2778258057 @default.
• W2968053018 hasConceptScore W2968053018C2778324535 @default.
• W2968053018 hasConceptScore W2968053018C2779234561 @default.
• W2968053018 hasConceptScore W2968053018C2779272188 @default.
• W2968053018 hasConceptScore W2968053018C2780246931 @default.
• W2968053018 hasConceptScore W2968053018C2781037291 @default.
• W2968053018 hasConceptScore W2968053018C29456083 @default.
• W2968053018 hasConceptScore W2968053018C30481170 @default.
• W2968053018 hasConceptScore W2968053018C53226629 @default.
• W2968053018 hasConceptScore W2968053018C54355233 @default.
• W2968053018 hasConceptScore W2968053018C71924100 @default.
• W2968053018 hasConceptScore W2968053018C73456138 @default.
• W2968053018 hasConceptScore W2968053018C86803240 @default.
• W2968053018 hasIssue "6" @default.
• W2968053018 hasLocation W29680530181 @default.
• W2968053018 hasLocation W29680530182 @default.
• W2968053018 hasLocation W29680530183 @default.
• W2968053018 hasLocation W29680530184 @default.
• W2968053018 hasOpenAccess W2968053018 @default.
• W2968053018 hasPrimaryLocation W29680530181 @default.
• W2968053018 hasRelatedWork W1964292567 @default.
• W2968053018 hasRelatedWork W2100830975 @default.
• W2968053018 hasRelatedWork W2114571766 @default.
• W2968053018 hasRelatedWork W2129295306 @default.
• W2968053018 hasRelatedWork W2207317873 @default.
• W2968053018 hasRelatedWork W2270979754 @default.
• W2968053018 hasRelatedWork W2274985684 @default.
• W2968053018 hasRelatedWork W2897294764 @default.
• W2968053018 hasRelatedWork W3107943626 @default.
• W2968053018 hasRelatedWork W4255661268 @default.
• W2968053018 hasVolume "5" @default.
• W2968053018 isParatext "false" @default.
• W2968053018 isRetracted "false" @default.
• W2968053018 magId "2968053018" @default.

• next