FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4224231057> ?p ?o ?g. }

• W4224231057 abstract "SUMMARY Background KBG syndrome is a highly variable neurodevelopmental disorder and clinical diagnostic criteria have changed as new patients have been published. Both loss-of-function sequence variants and large deletions (CNVs) involving ANKRD11 have been involved in KBG, but no genotype-phenotype correlation has been reported to date. This study presents the clinical and molecular characteristics of 67 new patients with KBG syndrome and the results of the first genotype-phenotype correlation leveraging data on 273 patients previously published. Methods 67 patients with KBG syndrome were recruited through a Spanish collaborative effort and were assessed using a custom phenotypic questionnaire. The frequency of all features was calculated. Manifestations present in >50% of the patients and a “severity score” were used to perform a genotype-phenotype correlation in the 340 KBG patients. Results Neurodevelopmental delay (95%), comorbidites (82.8%), macrodontia (80.9%), triangular face (71%), characteristic ears (76%), nose (75.9%) and eyebrows (67.3%) were the most prevalent features in the 67 patients. The genotype-phenotype correlation yielded significant associations with the triangular face (71.1% in patients with sequence variants vs 45.2% in CNVs, p=0.015), short stature (62.5% variants in exon 9 vs. 27.8% outside; p=0.009) and macrodontia (with larger deletions, p=0.028), ID/ADHD/ASD (70.4% in c.1903_1907del vs. 89.4%; p=0.012) and a higher phenotypic score in patients with sequence variants compared with CNVs (p=0.005). Conclusions We present a detailed phenotypic description of KBG syndrome in the largest series of patients reported to date, provide evidence of a genotype-phenotype correlation between some KBG features and specific ANKRD11 aberrations, and propose updated clinical diagnostic criteria based on our findings." @default.
• W4224231057 created "2022-04-26" @default.
• W4224231057 creator A5017015722 @default.
• W4224231057 creator A5053992907 @default.
• W4224231057 creator A5066052617 @default.
• W4224231057 date "2022-04-18" @default.
• W4224231057 modified "2023-10-15" @default.
• W4224231057 title "Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients" @default.
• W4224231057 cites W1514919670 @default.
• W4224231057 cites W1577953166 @default.
• W4224231057 cites W2033604705 @default.
• W4224231057 cites W2033871893 @default.
• W4224231057 cites W2041109137 @default.
• W4224231057 cites W2056668451 @default.
• W4224231057 cites W2060980059 @default.
• W4224231057 cites W2064627378 @default.
• W4224231057 cites W2070978649 @default.
• W4224231057 cites W2073277423 @default.
• W4224231057 cites W2081223695 @default.
• W4224231057 cites W2093492282 @default.
• W4224231057 cites W2096578391 @default.
• W4224231057 cites W2124424065 @default.
• W4224231057 cites W2149160101 @default.
• W4224231057 cites W2328102294 @default.
• W4224231057 cites W2507587501 @default.
• W4224231057 cites W2526838837 @default.
• W4224231057 cites W2557852457 @default.
• W4224231057 cites W2571094594 @default.
• W4224231057 cites W2575075773 @default.
• W4224231057 cites W2581649032 @default.
• W4224231057 cites W2593563138 @default.
• W4224231057 cites W2605396479 @default.
• W4224231057 cites W2608675089 @default.
• W4224231057 cites W2745420719 @default.
• W4224231057 cites W2761586978 @default.
• W4224231057 cites W2778212411 @default.
• W4224231057 cites W2800687376 @default.
• W4224231057 cites W2887032733 @default.
• W4224231057 cites W2910569319 @default.
• W4224231057 cites W2922472978 @default.
• W4224231057 cites W2985789142 @default.
• W4224231057 cites W3004531765 @default.
• W4224231057 cites W3005198668 @default.
• W4224231057 cites W3009964095 @default.
• W4224231057 cites W3014032713 @default.
• W4224231057 cites W3023309870 @default.
• W4224231057 cites W3030201054 @default.
• W4224231057 cites W3100002590 @default.
• W4224231057 cites W3117922741 @default.
• W4224231057 cites W3139096749 @default.
• W4224231057 cites W3158729684 @default.
• W4224231057 cites W3194724190 @default.
• W4224231057 doi "https://doi.org/10.1101/2022.04.11.22271283" @default.
• W4224231057 hasPublicationYear "2022" @default.
• W4224231057 type Work @default.
• W4224231057 citedByCount "0" @default.
• W4224231057 crossrefType "posted-content" @default.
• W4224231057 hasAuthorship W4224231057A5017015722 @default.
• W4224231057 hasAuthorship W4224231057A5053992907 @default.
• W4224231057 hasAuthorship W4224231057A5066052617 @default.
• W4224231057 hasBestOaLocation W42242310571 @default.
• W4224231057 hasConcept C104317684 @default.
• W4224231057 hasConcept C117220453 @default.
• W4224231057 hasConcept C126322002 @default.
• W4224231057 hasConcept C127716648 @default.
• W4224231057 hasConcept C135763542 @default.
• W4224231057 hasConcept C200844832 @default.
• W4224231057 hasConcept C2524010 @default.
• W4224231057 hasConcept C33923547 @default.
• W4224231057 hasConcept C54355233 @default.
• W4224231057 hasConcept C71924100 @default.
• W4224231057 hasConcept C86803240 @default.
• W4224231057 hasConcept C90924648 @default.
• W4224231057 hasConceptScore W4224231057C104317684 @default.
• W4224231057 hasConceptScore W4224231057C117220453 @default.
• W4224231057 hasConceptScore W4224231057C126322002 @default.
• W4224231057 hasConceptScore W4224231057C127716648 @default.
• W4224231057 hasConceptScore W4224231057C135763542 @default.
• W4224231057 hasConceptScore W4224231057C200844832 @default.
• W4224231057 hasConceptScore W4224231057C2524010 @default.
• W4224231057 hasConceptScore W4224231057C33923547 @default.
• W4224231057 hasConceptScore W4224231057C54355233 @default.
• W4224231057 hasConceptScore W4224231057C71924100 @default.
• W4224231057 hasConceptScore W4224231057C86803240 @default.
• W4224231057 hasConceptScore W4224231057C90924648 @default.
• W4224231057 hasLocation W42242310571 @default.
• W4224231057 hasOpenAccess W4224231057 @default.
• W4224231057 hasPrimaryLocation W42242310571 @default.
• W4224231057 hasRelatedWork W1529641774 @default.
• W4224231057 hasRelatedWork W1577495460 @default.
• W4224231057 hasRelatedWork W1995919294 @default.
• W4224231057 hasRelatedWork W2143411193 @default.
• W4224231057 hasRelatedWork W2342398113 @default.
• W4224231057 hasRelatedWork W2407001458 @default.
• W4224231057 hasRelatedWork W4234116387 @default.
• W4224231057 hasRelatedWork W4242721089 @default.
• W4224231057 hasRelatedWork W4304587291 @default.
• W4224231057 hasRelatedWork W4319333460 @default.
• W4224231057 isParatext "false" @default.
• W4224231057 isRetracted "false" @default.

• next