FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2973122881> ?p ?o ?g. }

• W2973122881 endingPage "2283" @default.
• W2973122881 startingPage "2280" @default.
• W2973122881 abstract "Abstract Congenital chloride diarrhea (CCD) is an autosomal recessive hereditary disease manifested by persistent, watery, profuse diarrhea with high chloride concentration (>90 mmol/L). Postnatally, neonates suffer from hypochloremia, hyponatremia, hypokalemia, metabolic alkalosis, dehydration, developmental retardation, or even death. Prenatal diagnosis is of great importance for the prognosis of CCD. We report a prenatal recurrent case of CCD. Prenatal ultrasound revealed fetal diffuse intestinal dilation with the typical honeycomb sign and polyhydramnios with high amniotic fluid index. The whole exome capture and massively‐parallel DNA sequencing showed an abnormal mutation of Solute Carrier Family 26, Member 3 (SLC26A3), c.1039G>A (p.Ala347Thr), and the mutation sites were verified by sanger sequencing. When prenatal ultrasound shows polyhydramnios and diffuse intestinal dilation, CCD should be suspected. Molecular genetic testing can be helpful for the diagnosis." @default.
• W2973122881 created "2019-09-19" @default.
• W2973122881 creator A5000534970 @default.
• W2973122881 creator A5002214937 @default.
• W2973122881 creator A5013499387 @default.
• W2973122881 creator A5069916546 @default.
• W2973122881 creator A5071996219 @default.
• W2973122881 creator A5088005880 @default.
• W2973122881 date "2019-09-09" @default.
• W2973122881 modified "2023-10-02" @default.
• W2973122881 title "Novel solute carrier family 26, member 3 mutation in a prenatal recurrent case with congenital chloride diarrhea" @default.
• W2973122881 cites W1987612003 @default.
• W2973122881 cites W2009086426 @default.
• W2973122881 cites W2022687523 @default.
• W2973122881 cites W2030135502 @default.
• W2973122881 cites W2035893433 @default.
• W2973122881 cites W2050660198 @default.
• W2973122881 cites W2051978340 @default.
• W2973122881 cites W2055362114 @default.
• W2973122881 cites W2091349763 @default.
• W2973122881 cites W2091394556 @default.
• W2973122881 cites W2131998201 @default.
• W2973122881 cites W2132092571 @default.
• W2973122881 cites W2152745352 @default.
• W2973122881 cites W2163374484 @default.
• W2973122881 cites W2638979913 @default.
• W2973122881 doi "https://doi.org/10.1111/jog.14089" @default.
• W2973122881 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6899882" @default.
• W2973122881 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31499577" @default.
• W2973122881 hasPublicationYear "2019" @default.
• W2973122881 type Work @default.
• W2973122881 sameAs 2973122881 @default.
• W2973122881 citedByCount "4" @default.
• W2973122881 countsByYear W29731228812020 @default.
• W2973122881 countsByYear W29731228812021 @default.
• W2973122881 countsByYear W29731228812023 @default.
• W2973122881 crossrefType "journal-article" @default.
• W2973122881 hasAuthorship W2973122881A5000534970 @default.
• W2973122881 hasAuthorship W2973122881A5002214937 @default.
• W2973122881 hasAuthorship W2973122881A5013499387 @default.
• W2973122881 hasAuthorship W2973122881A5069916546 @default.
• W2973122881 hasAuthorship W2973122881A5071996219 @default.
• W2973122881 hasAuthorship W2973122881A5088005880 @default.
• W2973122881 hasBestOaLocation W29731228811 @default.
• W2973122881 hasConcept C104317684 @default.
• W2973122881 hasConcept C12125453 @default.
• W2973122881 hasConcept C126322002 @default.
• W2973122881 hasConcept C131872663 @default.
• W2973122881 hasConcept C172680121 @default.
• W2973122881 hasConcept C2776907564 @default.
• W2973122881 hasConcept C2777462456 @default.
• W2973122881 hasConcept C2777652975 @default.
• W2973122881 hasConcept C2778194526 @default.
• W2973122881 hasConcept C2778242168 @default.
• W2973122881 hasConcept C2778258057 @default.
• W2973122881 hasConcept C2779234561 @default.
• W2973122881 hasConcept C2779539245 @default.
• W2973122881 hasConcept C2779802037 @default.
• W2973122881 hasConcept C501734568 @default.
• W2973122881 hasConcept C54355233 @default.
• W2973122881 hasConcept C71924100 @default.
• W2973122881 hasConcept C75563809 @default.
• W2973122881 hasConcept C86803240 @default.
• W2973122881 hasConcept C90924648 @default.
• W2973122881 hasConcept C96777560 @default.
• W2973122881 hasConceptScore W2973122881C104317684 @default.
• W2973122881 hasConceptScore W2973122881C12125453 @default.
• W2973122881 hasConceptScore W2973122881C126322002 @default.
• W2973122881 hasConceptScore W2973122881C131872663 @default.
• W2973122881 hasConceptScore W2973122881C172680121 @default.
• W2973122881 hasConceptScore W2973122881C2776907564 @default.
• W2973122881 hasConceptScore W2973122881C2777462456 @default.
• W2973122881 hasConceptScore W2973122881C2777652975 @default.
• W2973122881 hasConceptScore W2973122881C2778194526 @default.
• W2973122881 hasConceptScore W2973122881C2778242168 @default.
• W2973122881 hasConceptScore W2973122881C2778258057 @default.
• W2973122881 hasConceptScore W2973122881C2779234561 @default.
• W2973122881 hasConceptScore W2973122881C2779539245 @default.
• W2973122881 hasConceptScore W2973122881C2779802037 @default.
• W2973122881 hasConceptScore W2973122881C501734568 @default.
• W2973122881 hasConceptScore W2973122881C54355233 @default.
• W2973122881 hasConceptScore W2973122881C71924100 @default.
• W2973122881 hasConceptScore W2973122881C75563809 @default.
• W2973122881 hasConceptScore W2973122881C86803240 @default.
• W2973122881 hasConceptScore W2973122881C90924648 @default.
• W2973122881 hasConceptScore W2973122881C96777560 @default.
• W2973122881 hasIssue "11" @default.
• W2973122881 hasLocation W29731228811 @default.
• W2973122881 hasLocation W29731228812 @default.
• W2973122881 hasLocation W29731228813 @default.
• W2973122881 hasLocation W29731228814 @default.
• W2973122881 hasOpenAccess W2973122881 @default.
• W2973122881 hasPrimaryLocation W29731228811 @default.
• W2973122881 hasRelatedWork W1966341984 @default.
• W2973122881 hasRelatedWork W2126285425 @default.
• W2973122881 hasRelatedWork W2181537719 @default.
• W2973122881 hasRelatedWork W239561540 @default.
• W2973122881 hasRelatedWork W2588987384 @default.

• next