FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2071846961> ?p ?o ?g. }

• W2071846961 endingPage "3173" @default.
• W2071846961 startingPage "3168" @default.
• W2071846961 abstract "Mutations in the NK2 homeobox 1 gene (NKX2-1) cause a rare syndrome known as choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress syndrome (OMIM 610978). Here we present the first reported patient with this condition caused by a 14q13.3 deletion which is adjacent to but does not interrupt NKX2-1, and review the literature on this condition. The infant presented at 23 months with a history of developmental delay, hyperkinesia, recurrent respiratory infections, neonatal respiratory distress, and hypothyroidism. Choreiform movements and delayed motor milestones were first noted at 6–8 months of age. TSH levels had been consistently elevated from 8 months of age. The clinical presentation was suggestive of an NKX2-1 mutation. Sequencing of all exons and splice site junctions of NKX2-1 was performed but was normal. Array CGH was then performed and a 3.29 Mb interstitial deletion at 14q13.1–q13.3 was detected. The distal region of loss of the deletion disrupted the surfactant associated 3 (SFTA3) gene but did disrupt NKX2-1. Findings were confirmed on high resolution SNP array and multiplex semiquanitative PCR. NKX2-1 encodes transcriptional factors involved in the developmental pathways for thyroid, lung, and brain. We hypothesize that the region centromeric to NKX2-1 is important for the normal functioning of this gene and when interrupted produces a phenotype that is typical of the choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress syndrome, as seen in our patient. We conclude that deletions at 14q13.3 adjacent to but not involving NKX2-1 can cause choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress syndrome. © 2012 Wiley Periodicals, Inc." @default.
• W2071846961 created "2016-06-24" @default.
• W2071846961 creator A5000535160 @default.
• W2071846961 creator A5001634072 @default.
• W2071846961 creator A5006892855 @default.
• W2071846961 creator A5016228050 @default.
• W2071846961 creator A5019713057 @default.
• W2071846961 creator A5053194629 @default.
• W2071846961 creator A5061490873 @default.
• W2071846961 creator A5068952889 @default.
• W2071846961 date "2012-11-20" @default.
• W2071846961 modified "2023-09-27" @default.
• W2071846961 title "Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact<i>NKX2-1</i>" @default.
• W2071846961 cites W106000010 @default.
• W2071846961 cites W1963399078 @default.
• W2071846961 cites W1967454766 @default.
• W2071846961 cites W1996760543 @default.
• W2071846961 cites W2000799000 @default.
• W2071846961 cites W2012858641 @default.
• W2071846961 cites W2030182530 @default.
• W2071846961 cites W2037545873 @default.
• W2071846961 cites W2041841488 @default.
• W2071846961 cites W2045211859 @default.
• W2071846961 cites W2077899225 @default.
• W2071846961 cites W2092807530 @default.
• W2071846961 cites W2096374604 @default.
• W2071846961 cites W2099386068 @default.
• W2071846961 cites W2110329932 @default.
• W2071846961 cites W2116199324 @default.
• W2071846961 cites W2125467859 @default.
• W2071846961 cites W2134368652 @default.
• W2071846961 cites W2163916019 @default.
• W2071846961 cites W2334646199 @default.
• W2071846961 cites W4235058782 @default.
• W2071846961 cites W4255164449 @default.
• W2071846961 doi "https://doi.org/10.1002/ajmg.a.35456" @default.
• W2071846961 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23169673" @default.
• W2071846961 hasPublicationYear "2012" @default.
• W2071846961 type Work @default.
• W2071846961 sameAs 2071846961 @default.
• W2071846961 citedByCount "30" @default.
• W2071846961 countsByYear W20718469612014 @default.
• W2071846961 countsByYear W20718469612015 @default.
• W2071846961 countsByYear W20718469612016 @default.
• W2071846961 countsByYear W20718469612017 @default.
• W2071846961 countsByYear W20718469612018 @default.
• W2071846961 countsByYear W20718469612020 @default.
• W2071846961 countsByYear W20718469612021 @default.
• W2071846961 countsByYear W20718469612022 @default.
• W2071846961 countsByYear W20718469612023 @default.
• W2071846961 crossrefType "journal-article" @default.
• W2071846961 hasAuthorship W2071846961A5000535160 @default.
• W2071846961 hasAuthorship W2071846961A5001634072 @default.
• W2071846961 hasAuthorship W2071846961A5006892855 @default.
• W2071846961 hasAuthorship W2071846961A5016228050 @default.
• W2071846961 hasAuthorship W2071846961A5019713057 @default.
• W2071846961 hasAuthorship W2071846961A5053194629 @default.
• W2071846961 hasAuthorship W2071846961A5061490873 @default.
• W2071846961 hasAuthorship W2071846961A5068952889 @default.
• W2071846961 hasConcept C118552586 @default.
• W2071846961 hasConcept C126322002 @default.
• W2071846961 hasConcept C141983124 @default.
• W2071846961 hasConcept C187212893 @default.
• W2071846961 hasConcept C2778376644 @default.
• W2071846961 hasConcept C2778559928 @default.
• W2071846961 hasConcept C2778868616 @default.
• W2071846961 hasConcept C2779134260 @default.
• W2071846961 hasConcept C2779234561 @default.
• W2071846961 hasConcept C2779248548 @default.
• W2071846961 hasConcept C2779258352 @default.
• W2071846961 hasConcept C2779734285 @default.
• W2071846961 hasConcept C2780395437 @default.
• W2071846961 hasConcept C2780405171 @default.
• W2071846961 hasConcept C2780752186 @default.
• W2071846961 hasConcept C2781196186 @default.
• W2071846961 hasConcept C2908567754 @default.
• W2071846961 hasConcept C42219234 @default.
• W2071846961 hasConcept C526584372 @default.
• W2071846961 hasConcept C54355233 @default.
• W2071846961 hasConcept C71924100 @default.
• W2071846961 hasConcept C86803240 @default.
• W2071846961 hasConceptScore W2071846961C118552586 @default.
• W2071846961 hasConceptScore W2071846961C126322002 @default.
• W2071846961 hasConceptScore W2071846961C141983124 @default.
• W2071846961 hasConceptScore W2071846961C187212893 @default.
• W2071846961 hasConceptScore W2071846961C2778376644 @default.
• W2071846961 hasConceptScore W2071846961C2778559928 @default.
• W2071846961 hasConceptScore W2071846961C2778868616 @default.
• W2071846961 hasConceptScore W2071846961C2779134260 @default.
• W2071846961 hasConceptScore W2071846961C2779234561 @default.
• W2071846961 hasConceptScore W2071846961C2779248548 @default.
• W2071846961 hasConceptScore W2071846961C2779258352 @default.
• W2071846961 hasConceptScore W2071846961C2779734285 @default.
• W2071846961 hasConceptScore W2071846961C2780395437 @default.
• W2071846961 hasConceptScore W2071846961C2780405171 @default.
• W2071846961 hasConceptScore W2071846961C2780752186 @default.
• W2071846961 hasConceptScore W2071846961C2781196186 @default.
• W2071846961 hasConceptScore W2071846961C2908567754 @default.

• next