Matches in SemOpenAlex for { <https://semopenalex.org/work/W3208344545> ?p ?o ?g. }
- W3208344545 endingPage "952" @default.
- W3208344545 startingPage "952" @default.
- W3208344545 abstract "Wiedemann-Steiner syndrome (WSS) is a rare genetic disorder. Patients with WSS have characteristics of growth retardation, facial dysmorphism, hypertrichosis cubiti (HC), and neurodevelopmental delays. WSS is in an autosomal dominant inherited pattern caused by a mutation of the KMT2A gene (NM_001197104.2). In this article, we discuss a 5-year-old boy who has mild intellectual disability (ID), hypotonia, HC, hypertrichosis on the back, dysmorphic facies, psychomotor retardation, and growth delay. Trio-based whole-exome sequencing (trio-WES) was carried out on this patient and his parents, confirming the variants with Sanger sequencing. Trio-WES showed a de novo mutation of the KMT2A gene (NM_001197104.2: c.4696G>A, p.Gly1566Arg). On the basis of the clinical features and the results of the WES, WSS was diagnosed. Therefore, medical professionals should consider a diagnosis of WSS if patients have growth retardation and development delay as well as hirsutism, particularly HC." @default.
- W3208344545 created "2021-11-08" @default.
- W3208344545 creator A5004782890 @default.
- W3208344545 creator A5014550528 @default.
- W3208344545 creator A5027663283 @default.
- W3208344545 creator A5047228974 @default.
- W3208344545 creator A5047699221 @default.
- W3208344545 creator A5066366132 @default.
- W3208344545 creator A5068739516 @default.
- W3208344545 creator A5077170129 @default.
- W3208344545 date "2021-10-22" @default.
- W3208344545 modified "2023-09-28" @default.
- W3208344545 title "Wiedemann–Steiner Syndrome with a Pathogenic Variant in KMT2A from Taiwan" @default.
- W3208344545 cites W175899624 @default.
- W3208344545 cites W1973154957 @default.
- W3208344545 cites W1982315838 @default.
- W3208344545 cites W1989878674 @default.
- W3208344545 cites W2012882850 @default.
- W3208344545 cites W2040675004 @default.
- W3208344545 cites W2042254090 @default.
- W3208344545 cites W2051978340 @default.
- W3208344545 cites W2600895856 @default.
- W3208344545 cites W2746909419 @default.
- W3208344545 cites W2791847870 @default.
- W3208344545 cites W2888631106 @default.
- W3208344545 cites W2897582194 @default.
- W3208344545 cites W2905312472 @default.
- W3208344545 cites W2942256198 @default.
- W3208344545 cites W2944782646 @default.
- W3208344545 cites W2954495379 @default.
- W3208344545 cites W2984835162 @default.
- W3208344545 cites W3009214434 @default.
- W3208344545 cites W3017158406 @default.
- W3208344545 cites W3108405301 @default.
- W3208344545 doi "https://doi.org/10.3390/children8110952" @default.
- W3208344545 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8620998" @default.
- W3208344545 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34828665" @default.
- W3208344545 hasPublicationYear "2021" @default.
- W3208344545 type Work @default.
- W3208344545 sameAs 3208344545 @default.
- W3208344545 citedByCount "1" @default.
- W3208344545 countsByYear W32083445452023 @default.
- W3208344545 crossrefType "journal-article" @default.
- W3208344545 hasAuthorship W3208344545A5004782890 @default.
- W3208344545 hasAuthorship W3208344545A5014550528 @default.
- W3208344545 hasAuthorship W3208344545A5027663283 @default.
- W3208344545 hasAuthorship W3208344545A5047228974 @default.
- W3208344545 hasAuthorship W3208344545A5047699221 @default.
- W3208344545 hasAuthorship W3208344545A5066366132 @default.
- W3208344545 hasAuthorship W3208344545A5068739516 @default.
- W3208344545 hasAuthorship W3208344545A5077170129 @default.
- W3208344545 hasBestOaLocation W32083445451 @default.
- W3208344545 hasConcept C104317684 @default.
- W3208344545 hasConcept C127716648 @default.
- W3208344545 hasConcept C142724271 @default.
- W3208344545 hasConcept C16005928 @default.
- W3208344545 hasConcept C16671776 @default.
- W3208344545 hasConcept C187212893 @default.
- W3208344545 hasConcept C204787440 @default.
- W3208344545 hasConcept C2775876775 @default.
- W3208344545 hasConcept C2776202747 @default.
- W3208344545 hasConcept C2779234561 @default.
- W3208344545 hasConcept C2779546488 @default.
- W3208344545 hasConcept C3020705096 @default.
- W3208344545 hasConcept C501734568 @default.
- W3208344545 hasConcept C54355233 @default.
- W3208344545 hasConcept C551499885 @default.
- W3208344545 hasConcept C68838962 @default.
- W3208344545 hasConcept C71924100 @default.
- W3208344545 hasConcept C76818968 @default.
- W3208344545 hasConcept C86803240 @default.
- W3208344545 hasConceptScore W3208344545C104317684 @default.
- W3208344545 hasConceptScore W3208344545C127716648 @default.
- W3208344545 hasConceptScore W3208344545C142724271 @default.
- W3208344545 hasConceptScore W3208344545C16005928 @default.
- W3208344545 hasConceptScore W3208344545C16671776 @default.
- W3208344545 hasConceptScore W3208344545C187212893 @default.
- W3208344545 hasConceptScore W3208344545C204787440 @default.
- W3208344545 hasConceptScore W3208344545C2775876775 @default.
- W3208344545 hasConceptScore W3208344545C2776202747 @default.
- W3208344545 hasConceptScore W3208344545C2779234561 @default.
- W3208344545 hasConceptScore W3208344545C2779546488 @default.
- W3208344545 hasConceptScore W3208344545C3020705096 @default.
- W3208344545 hasConceptScore W3208344545C501734568 @default.
- W3208344545 hasConceptScore W3208344545C54355233 @default.
- W3208344545 hasConceptScore W3208344545C551499885 @default.
- W3208344545 hasConceptScore W3208344545C68838962 @default.
- W3208344545 hasConceptScore W3208344545C71924100 @default.
- W3208344545 hasConceptScore W3208344545C76818968 @default.
- W3208344545 hasConceptScore W3208344545C86803240 @default.
- W3208344545 hasFunder F4320322795 @default.
- W3208344545 hasFunder F4320322950 @default.
- W3208344545 hasIssue "11" @default.
- W3208344545 hasLocation W32083445451 @default.
- W3208344545 hasLocation W32083445452 @default.
- W3208344545 hasLocation W32083445453 @default.
- W3208344545 hasOpenAccess W3208344545 @default.
- W3208344545 hasPrimaryLocation W32083445451 @default.