FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3135557210> ?p ?o ?g. }

• W3135557210 endingPage "1210" @default.
• W3135557210 startingPage "1202" @default.
• W3135557210 abstract "PurposeThe variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2) are poorly understood.MethodsGenetic and clinical details of new and published individuals with pathogenic KDM6A variants were compiled and analyzed.ResultsSixty-one distinct pathogenic KDM6A variants (50 truncating, 11 missense) from 80 patients (34 males, 46 females) were identified. Missense variants clustered in the TRP 2, 3, 7 and Jmj-C domains. Truncating variants were significantly more likely to be de novo. Thirteen individuals had maternally inherited variants and one had a paternally inherited variant. Neonatal feeding difficulties, hypoglycemia, postnatal growth retardation, poor weight gain, motor delay, intellectual disability (ID), microcephaly, congenital heart anomalies, palate defects, renal malformations, strabismus, hearing loss, recurrent infections, hyperinsulinism, seizures, joint hypermobility, and gastroesophageal reflux were frequent clinical findings. Facial features of over a third of patients were not typical for KS. Males were significantly more likely to be born prematurely, have shorter stature, and severe developmental delay/ID.ConclusionWe expand the KDM6A variant spectrum and delineate the KS2 phenotype. We demonstrate that the variability of the KS2 phenotypic depends on sex and the variant type. We also highlight the overlaps and differences between the phenotypes of KS2 and KS1." @default.
• W3135557210 created "2021-03-15" @default.
• W3135557210 creator A5002416268 @default.
• W3135557210 creator A5003508333 @default.
• W3135557210 creator A5006575385 @default.
• W3135557210 creator A5013522333 @default.
• W3135557210 creator A5014558559 @default.
• W3135557210 creator A5015770832 @default.
• W3135557210 creator A5024253291 @default.
• W3135557210 creator A5029126187 @default.
• W3135557210 creator A5029730329 @default.
• W3135557210 creator A5030485933 @default.
• W3135557210 creator A5031104950 @default.
• W3135557210 creator A5031133326 @default.
• W3135557210 creator A5035912458 @default.
• W3135557210 creator A5038134557 @default.
• W3135557210 creator A5039796625 @default.
• W3135557210 creator A5043434052 @default.
• W3135557210 creator A5045322074 @default.
• W3135557210 creator A5051666208 @default.
• W3135557210 creator A5053057597 @default.
• W3135557210 creator A5053806792 @default.
• W3135557210 creator A5054257964 @default.
• W3135557210 creator A5055020907 @default.
• W3135557210 creator A5057108558 @default.
• W3135557210 creator A5058411501 @default.
• W3135557210 creator A5059430455 @default.
• W3135557210 creator A5067291160 @default.
• W3135557210 creator A5067679619 @default.
• W3135557210 creator A5069580610 @default.
• W3135557210 creator A5069749975 @default.
• W3135557210 creator A5072895240 @default.
• W3135557210 creator A5074442977 @default.
• W3135557210 creator A5076569844 @default.
• W3135557210 creator A5077908939 @default.
• W3135557210 creator A5080614992 @default.
• W3135557210 creator A5080957965 @default.
• W3135557210 creator A5081428902 @default.
• W3135557210 creator A5082755716 @default.
• W3135557210 creator A5082919510 @default.
• W3135557210 creator A5084445389 @default.
• W3135557210 creator A5085467135 @default.
• W3135557210 creator A5085951321 @default.
• W3135557210 creator A5089697557 @default.
• W3135557210 creator A5090170231 @default.
• W3135557210 creator A5053774512 @default.
• W3135557210 date "2021-07-01" @default.
• W3135557210 modified "2023-10-17" @default.
• W3135557210 title "Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2" @default.
• W3135557210 cites W2809277256 @default.
• W3135557210 cites W2999817690 @default.
• W3135557210 doi "https://doi.org/10.1038/s41436-021-01119-8" @default.
• W3135557210 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8257478" @default.
• W3135557210 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33674768" @default.
• W3135557210 hasPublicationYear "2021" @default.
• W3135557210 type Work @default.
• W3135557210 sameAs 3135557210 @default.
• W3135557210 citedByCount "25" @default.
• W3135557210 countsByYear W31355572102022 @default.
• W3135557210 countsByYear W31355572102023 @default.
• W3135557210 crossrefType "journal-article" @default.
• W3135557210 hasAuthorship W3135557210A5002416268 @default.
• W3135557210 hasAuthorship W3135557210A5003508333 @default.
• W3135557210 hasAuthorship W3135557210A5006575385 @default.
• W3135557210 hasAuthorship W3135557210A5013522333 @default.
• W3135557210 hasAuthorship W3135557210A5014558559 @default.
• W3135557210 hasAuthorship W3135557210A5015770832 @default.
• W3135557210 hasAuthorship W3135557210A5024253291 @default.
• W3135557210 hasAuthorship W3135557210A5029126187 @default.
• W3135557210 hasAuthorship W3135557210A5029730329 @default.
• W3135557210 hasAuthorship W3135557210A5030485933 @default.
• W3135557210 hasAuthorship W3135557210A5031104950 @default.
• W3135557210 hasAuthorship W3135557210A5031133326 @default.
• W3135557210 hasAuthorship W3135557210A5035912458 @default.
• W3135557210 hasAuthorship W3135557210A5038134557 @default.
• W3135557210 hasAuthorship W3135557210A5039796625 @default.
• W3135557210 hasAuthorship W3135557210A5043434052 @default.
• W3135557210 hasAuthorship W3135557210A5045322074 @default.
• W3135557210 hasAuthorship W3135557210A5051666208 @default.
• W3135557210 hasAuthorship W3135557210A5053057597 @default.
• W3135557210 hasAuthorship W3135557210A5053774512 @default.
• W3135557210 hasAuthorship W3135557210A5053806792 @default.
• W3135557210 hasAuthorship W3135557210A5054257964 @default.
• W3135557210 hasAuthorship W3135557210A5055020907 @default.
• W3135557210 hasAuthorship W3135557210A5057108558 @default.
• W3135557210 hasAuthorship W3135557210A5058411501 @default.
• W3135557210 hasAuthorship W3135557210A5059430455 @default.
• W3135557210 hasAuthorship W3135557210A5067291160 @default.
• W3135557210 hasAuthorship W3135557210A5067679619 @default.
• W3135557210 hasAuthorship W3135557210A5069580610 @default.
• W3135557210 hasAuthorship W3135557210A5069749975 @default.
• W3135557210 hasAuthorship W3135557210A5072895240 @default.
• W3135557210 hasAuthorship W3135557210A5074442977 @default.
• W3135557210 hasAuthorship W3135557210A5076569844 @default.
• W3135557210 hasAuthorship W3135557210A5077908939 @default.
• W3135557210 hasAuthorship W3135557210A5080614992 @default.
• W3135557210 hasAuthorship W3135557210A5080957965 @default.
• W3135557210 hasAuthorship W3135557210A5081428902 @default.

• next