Matches in SemOpenAlex for { <https://semopenalex.org/work/W4377098000> ?p ?o ?g. }
Showing items 1 to 92 of
92
with 100 items per page.
- W4377098000 abstract "Background Intellectual developmental disorder 7 (also named DYRK1A syndrome) is an autosomal dominant disease. The main clinical features of DYRK1A syndrome include intellectual disability, microcephaly, and developmental delay. This study aimed to identify pathogenic variants in a Chinese girl with developmental delay, impaired social interaction, and autistic behavior. Case presentation The case was a 6-year-old girl. Clinical symptoms of the patient mainly included developmental delay, seizures, autistic behavior and impaired social interaction. The patient presented with microcephaly, bushy eyebrows, a short lingual frenum, binocular esotropia, bilateral valgus and external rotation, and walked with an abnormal gait. Using whole-exome sequencing, we identified a 9,424 bp de novo heterozygous deletion (containing coding exons 10, 11, and 12, and partial sequences of non-coding exon 12) in DYRK1A , which is responsible for DYRK1A syndrome. The DYRK1A variant is classified as pathogenic according to the criteria of the American College of Medical Genetics and Genomics. Conclusions The findings of this study augment the data regarding the pathogenic variants of DYRK1A and provide important information for molecular diagnosis." @default.
- W4377098000 created "2023-05-20" @default.
- W4377098000 creator A5006883008 @default.
- W4377098000 creator A5015406142 @default.
- W4377098000 creator A5028696869 @default.
- W4377098000 creator A5036241779 @default.
- W4377098000 creator A5046779901 @default.
- W4377098000 creator A5067329795 @default.
- W4377098000 creator A5075517974 @default.
- W4377098000 date "2023-05-19" @default.
- W4377098000 modified "2023-09-26" @default.
- W4377098000 title "Case report: A novel de novo deletion mutation of DYRK1A is associated with intellectual developmental disorder, autosomal dominant 7" @default.
- W4377098000 cites W1520236834 @default.
- W4377098000 cites W1608240838 @default.
- W4377098000 cites W1809721560 @default.
- W4377098000 cites W1924064069 @default.
- W4377098000 cites W1978701742 @default.
- W4377098000 cites W1979702680 @default.
- W4377098000 cites W2014954063 @default.
- W4377098000 cites W2051978340 @default.
- W4377098000 cites W2107277218 @default.
- W4377098000 cites W2117065031 @default.
- W4377098000 cites W2143060505 @default.
- W4377098000 cites W2152705959 @default.
- W4377098000 cites W2152762793 @default.
- W4377098000 cites W2192080449 @default.
- W4377098000 cites W2511491430 @default.
- W4377098000 cites W2570509524 @default.
- W4377098000 cites W2801140847 @default.
- W4377098000 cites W2892826525 @default.
- W4377098000 cites W2988373465 @default.
- W4377098000 cites W3130380022 @default.
- W4377098000 cites W4220992413 @default.
- W4377098000 doi "https://doi.org/10.3389/fnins.2023.1174925" @default.
- W4377098000 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37274198" @default.
- W4377098000 hasPublicationYear "2023" @default.
- W4377098000 type Work @default.
- W4377098000 citedByCount "0" @default.
- W4377098000 crossrefType "journal-article" @default.
- W4377098000 hasAuthorship W4377098000A5006883008 @default.
- W4377098000 hasAuthorship W4377098000A5015406142 @default.
- W4377098000 hasAuthorship W4377098000A5028696869 @default.
- W4377098000 hasAuthorship W4377098000A5036241779 @default.
- W4377098000 hasAuthorship W4377098000A5046779901 @default.
- W4377098000 hasAuthorship W4377098000A5067329795 @default.
- W4377098000 hasAuthorship W4377098000A5075517974 @default.
- W4377098000 hasBestOaLocation W43770980001 @default.
- W4377098000 hasConcept C104317684 @default.
- W4377098000 hasConcept C118552586 @default.
- W4377098000 hasConcept C127716648 @default.
- W4377098000 hasConcept C16671776 @default.
- W4377098000 hasConcept C205778803 @default.
- W4377098000 hasConcept C2776395126 @default.
- W4377098000 hasConcept C2778594975 @default.
- W4377098000 hasConcept C2779674439 @default.
- W4377098000 hasConcept C501734568 @default.
- W4377098000 hasConcept C54355233 @default.
- W4377098000 hasConcept C551499885 @default.
- W4377098000 hasConcept C71924100 @default.
- W4377098000 hasConcept C86803240 @default.
- W4377098000 hasConceptScore W4377098000C104317684 @default.
- W4377098000 hasConceptScore W4377098000C118552586 @default.
- W4377098000 hasConceptScore W4377098000C127716648 @default.
- W4377098000 hasConceptScore W4377098000C16671776 @default.
- W4377098000 hasConceptScore W4377098000C205778803 @default.
- W4377098000 hasConceptScore W4377098000C2776395126 @default.
- W4377098000 hasConceptScore W4377098000C2778594975 @default.
- W4377098000 hasConceptScore W4377098000C2779674439 @default.
- W4377098000 hasConceptScore W4377098000C501734568 @default.
- W4377098000 hasConceptScore W4377098000C54355233 @default.
- W4377098000 hasConceptScore W4377098000C551499885 @default.
- W4377098000 hasConceptScore W4377098000C71924100 @default.
- W4377098000 hasConceptScore W4377098000C86803240 @default.
- W4377098000 hasLocation W43770980001 @default.
- W4377098000 hasLocation W43770980002 @default.
- W4377098000 hasLocation W43770980003 @default.
- W4377098000 hasOpenAccess W4377098000 @default.
- W4377098000 hasPrimaryLocation W43770980001 @default.
- W4377098000 hasRelatedWork W2750553168 @default.
- W4377098000 hasRelatedWork W2807921722 @default.
- W4377098000 hasRelatedWork W2895604329 @default.
- W4377098000 hasRelatedWork W2998731261 @default.
- W4377098000 hasRelatedWork W3095904161 @default.
- W4377098000 hasRelatedWork W3134083634 @default.
- W4377098000 hasRelatedWork W3182213820 @default.
- W4377098000 hasRelatedWork W3208604025 @default.
- W4377098000 hasRelatedWork W4308294454 @default.
- W4377098000 hasRelatedWork W4311824267 @default.
- W4377098000 hasVolume "17" @default.
- W4377098000 isParatext "false" @default.
- W4377098000 isRetracted "false" @default.
- W4377098000 workType "article" @default.