FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2963854160> ?p ?o ?g. }

• W2963854160 endingPage "2157" @default.
• W2963854160 startingPage "2152" @default.
• W2963854160 abstract "Abstract Mowat‐Wilson syndrome (MWS) is a complex genetic disorder associated with heterozygous variation in ZEB2 . It is mainly characterized by moderate‐to‐severe intellectual disability, facial dysmorphism, epilepsy, and various malformations including Hirschsprung disease, corpus callosum anomalies, and congenital heart defects. It is rarely diagnosed prenatally and there is limited information available on the prenatal phenotype associated with MWS. Here we report the detection of a heterozygous de novo nonsense variant in ZEB2 by whole exome sequencing in a fetus with microphthalmia in addition to cardiac defects and typical MWS facial dysmorphism. As the prenatal phenotypic spectrum of MWS expands, the routine addition of fetal genomic testing particularly in the presence of multiple malformations will increase both the sensitivity and specificity of prenatal diagnostics." @default.
• W2963854160 created "2019-07-30" @default.
• W2963854160 creator A5011646561 @default.
• W2963854160 creator A5027637467 @default.
• W2963854160 creator A5030784929 @default.
• W2963854160 creator A5039343928 @default.
• W2963854160 creator A5060427600 @default.
• W2963854160 creator A5063720376 @default.
• W2963854160 creator A5091099889 @default.
• W2963854160 date "2019-07-19" @default.
• W2963854160 modified "2023-09-25" @default.
• W2963854160 title "Fetal diagnosis of Mowat‐Wilson syndrome by whole exome sequencing" @default.
• W2963854160 cites W1898869076 @default.
• W2963854160 cites W1905195971 @default.
• W2963854160 cites W1987486107 @default.
• W2963854160 cites W1987878422 @default.
• W2963854160 cites W1993269659 @default.
• W2963854160 cites W1996722440 @default.
• W2963854160 cites W2018918737 @default.
• W2963854160 cites W2020202205 @default.
• W2963854160 cites W2021341670 @default.
• W2963854160 cites W2022969866 @default.
• W2963854160 cites W2030385147 @default.
• W2963854160 cites W2051411059 @default.
• W2963854160 cites W2051978340 @default.
• W2963854160 cites W2057056501 @default.
• W2963854160 cites W2060428581 @default.
• W2963854160 cites W2072929798 @default.
• W2963854160 cites W2074340800 @default.
• W2963854160 cites W2077648922 @default.
• W2963854160 cites W2085560366 @default.
• W2963854160 cites W2086782664 @default.
• W2963854160 cites W2097389735 @default.
• W2963854160 cites W2117131162 @default.
• W2963854160 cites W2123304253 @default.
• W2963854160 cites W2127081814 @default.
• W2963854160 cites W2146785579 @default.
• W2963854160 cites W2147271987 @default.
• W2963854160 cites W2167588661 @default.
• W2963854160 cites W2255154759 @default.
• W2963854160 cites W2339171031 @default.
• W2963854160 cites W2356454710 @default.
• W2963854160 cites W2551532565 @default.
• W2963854160 cites W2581649032 @default.
• W2963854160 cites W2612091911 @default.
• W2963854160 cites W2781520978 @default.
• W2963854160 cites W2893194557 @default.
• W2963854160 doi "https://doi.org/10.1002/ajmg.a.61295" @default.
• W2963854160 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31321886" @default.
• W2963854160 hasPublicationYear "2019" @default.
• W2963854160 type Work @default.
• W2963854160 sameAs 2963854160 @default.
• W2963854160 citedByCount "3" @default.
• W2963854160 countsByYear W29638541602020 @default.
• W2963854160 countsByYear W29638541602021 @default.
• W2963854160 crossrefType "journal-article" @default.
• W2963854160 hasAuthorship W2963854160A5011646561 @default.
• W2963854160 hasAuthorship W2963854160A5027637467 @default.
• W2963854160 hasAuthorship W2963854160A5030784929 @default.
• W2963854160 hasAuthorship W2963854160A5039343928 @default.
• W2963854160 hasAuthorship W2963854160A5060427600 @default.
• W2963854160 hasAuthorship W2963854160A5063720376 @default.
• W2963854160 hasAuthorship W2963854160A5091099889 @default.
• W2963854160 hasConcept C104317684 @default.
• W2963854160 hasConcept C10590036 @default.
• W2963854160 hasConcept C127716648 @default.
• W2963854160 hasConcept C142724271 @default.
• W2963854160 hasConcept C16671776 @default.
• W2963854160 hasConcept C172680121 @default.
• W2963854160 hasConcept C2778183499 @default.
• W2963854160 hasConcept C2778258057 @default.
• W2963854160 hasConcept C2778908642 @default.
• W2963854160 hasConcept C2779134260 @default.
• W2963854160 hasConcept C2779234561 @default.
• W2963854160 hasConcept C54355233 @default.
• W2963854160 hasConcept C551499885 @default.
• W2963854160 hasConcept C62923972 @default.
• W2963854160 hasConcept C71924100 @default.
• W2963854160 hasConcept C86803240 @default.
• W2963854160 hasConceptScore W2963854160C104317684 @default.
• W2963854160 hasConceptScore W2963854160C10590036 @default.
• W2963854160 hasConceptScore W2963854160C127716648 @default.
• W2963854160 hasConceptScore W2963854160C142724271 @default.
• W2963854160 hasConceptScore W2963854160C16671776 @default.
• W2963854160 hasConceptScore W2963854160C172680121 @default.
• W2963854160 hasConceptScore W2963854160C2778183499 @default.
• W2963854160 hasConceptScore W2963854160C2778258057 @default.
• W2963854160 hasConceptScore W2963854160C2778908642 @default.
• W2963854160 hasConceptScore W2963854160C2779134260 @default.
• W2963854160 hasConceptScore W2963854160C2779234561 @default.
• W2963854160 hasConceptScore W2963854160C54355233 @default.
• W2963854160 hasConceptScore W2963854160C551499885 @default.
• W2963854160 hasConceptScore W2963854160C62923972 @default.
• W2963854160 hasConceptScore W2963854160C71924100 @default.
• W2963854160 hasConceptScore W2963854160C86803240 @default.
• W2963854160 hasFunder F4320334705 @default.
• W2963854160 hasIssue "10" @default.
• W2963854160 hasLocation W29638541601 @default.

• next