FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2046504838> ?p ?o ?g. }

• W2046504838 endingPage "1235" @default.
• W2046504838 startingPage "1231" @default.
• W2046504838 abstract "In 1998, Hisama et al. described three brothers born following pregnancies complicated by oligohydramnios in the second or third trimester. Post-natal renal functions were compromised, and post-mortem studies showed kidney tissue abnormalities. Resuscitation and support were required, and they survived 25 hr to 12 days. All boys had a similar craniofacial appearance with infraorbital creases, low set dysplastic ears, as well as athelia, and broad digits with small nails. Variably present features were choanal atresia, preauricular tags and pits, branchial clefts, ventricular septal defect, type IIB interrupted aortic arch, pulmonary lobation anomaly, absent gallbladder, absent thymus, absent parathyroid gland, accessory spleen, and imperforate anus. Their mother, maternal grandmother, and maternal first cousin had neck cysts removed as children. We describe a female infant born following a pregnancy where oligohydramnios developed between 27 and 33 weeks gestation. Renal function was initially impaired, but improved over the first weeks of life. There was however a persistent renal wasting of magnesium. Her craniofacial appearance with infraorbital creases and low set dysplastic ears was similar to the brothers' described by Hisama et al. [1998; Am J Med Genet 80:335-342]. She had choanal atresia, athelia, a preauricular pit, gingival cysts, broad digits with small nails, right aortic arch with a vascular ring, hypothyroidism, impaired glucose homeostasis, hypoadrenalism, neurological impairment, and brain calcifications on CT. She died after 13 weeks of intensive care. Her mother as a child and maternal grandfather as an adult had neck cysts removed. The similarities between the cases suggest a common syndrome." @default.
• W2046504838 created "2016-06-24" @default.
• W2046504838 creator A5014280043 @default.
• W2046504838 creator A5088623146 @default.
• W2046504838 date "2007-06-01" @default.
• W2046504838 modified "2023-09-23" @default.
• W2046504838 title "Report of a fourth individual with a lethal syndrome of choanal atresia, athelia, evidence of renal tubulopathy, and family history of neck cysts" @default.
• W2046504838 cites W1966452949 @default.
• W2046504838 cites W1975971215 @default.
• W2046504838 cites W1992786167 @default.
• W2046504838 cites W1999055847 @default.
• W2046504838 cites W2023434161 @default.
• W2046504838 cites W2030062384 @default.
• W2046504838 cites W2035784562 @default.
• W2046504838 cites W2074802551 @default.
• W2046504838 cites W2126327864 @default.
• W2046504838 cites W4234943551 @default.
• W2046504838 doi "https://doi.org/10.1002/ajmg.a.31734" @default.
• W2046504838 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17486625" @default.
• W2046504838 hasPublicationYear "2007" @default.
• W2046504838 type Work @default.
• W2046504838 sameAs 2046504838 @default.
• W2046504838 citedByCount "5" @default.
• W2046504838 countsByYear W20465048382014 @default.
• W2046504838 countsByYear W20465048382020 @default.
• W2046504838 crossrefType "journal-article" @default.
• W2046504838 hasAuthorship W2046504838A5014280043 @default.
• W2046504838 hasAuthorship W2046504838A5088623146 @default.
• W2046504838 hasConcept C105702510 @default.
• W2046504838 hasConcept C2777267824 @default.
• W2046504838 hasConcept C2779234561 @default.
• W2046504838 hasConcept C2781056747 @default.
• W2046504838 hasConcept C46973012 @default.
• W2046504838 hasConcept C54355233 @default.
• W2046504838 hasConcept C71924100 @default.
• W2046504838 hasConcept C86803240 @default.
• W2046504838 hasConceptScore W2046504838C105702510 @default.
• W2046504838 hasConceptScore W2046504838C2777267824 @default.
• W2046504838 hasConceptScore W2046504838C2779234561 @default.
• W2046504838 hasConceptScore W2046504838C2781056747 @default.
• W2046504838 hasConceptScore W2046504838C46973012 @default.
• W2046504838 hasConceptScore W2046504838C54355233 @default.
• W2046504838 hasConceptScore W2046504838C71924100 @default.
• W2046504838 hasConceptScore W2046504838C86803240 @default.
• W2046504838 hasIssue "11" @default.
• W2046504838 hasLocation W20465048381 @default.
• W2046504838 hasLocation W20465048382 @default.
• W2046504838 hasOpenAccess W2046504838 @default.
• W2046504838 hasPrimaryLocation W20465048381 @default.
• W2046504838 hasRelatedWork W126763105 @default.
• W2046504838 hasRelatedWork W151199466 @default.
• W2046504838 hasRelatedWork W2076802639 @default.
• W2046504838 hasRelatedWork W2095571584 @default.
• W2046504838 hasRelatedWork W2118179938 @default.
• W2046504838 hasRelatedWork W2134214319 @default.
• W2046504838 hasRelatedWork W2162246222 @default.
• W2046504838 hasRelatedWork W2400975298 @default.
• W2046504838 hasRelatedWork W2586308089 @default.
• W2046504838 hasRelatedWork W4232675372 @default.
• W2046504838 hasVolume "143A" @default.
• W2046504838 isParatext "false" @default.
• W2046504838 isRetracted "false" @default.
• W2046504838 magId "2046504838" @default.
• W2046504838 workType "article" @default.