FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2129208097> ?p ?o ?g. }

• W2129208097 endingPage "248" @default.
• W2129208097 startingPage "242" @default.
• W2129208097 abstract "We report on a 35-week gestation female fetus with Hutchinson-Gilford progeria (HGP). This patient, who is the first reported with neonatal HGP in the English literature but is the fourth, counting three previous French cases, supports the existence of a more severe prenatal form of progeria. She died 7 hours after birth and presented with intrauterine growth retardation, premature aging, absence of subcutaneous fat, brachydactyly, absent nipples, hypoplastic external genitalia, and abnormal ear lobes. The child's combination of clinical and skeletal manifestations differentiates this form of HGP from other progeroid syndromes with neonatal presentation. We also report previously undescribed autopsy findings including premature loss of hair follicles, premature regression of the renal nephrogenic layer, and premature closure of the growth plates in the distal phalanges that may be related to the aging processes in this condition. We could not find any histological data to support acro-osteolysis, which is the radiographic sign of brachydactyly. The terminal phalanges in HGP seem to be underdeveloped rather than osteolytic." @default.
• W2129208097 created "2016-06-24" @default.
• W2129208097 creator A5000896542 @default.
• W2129208097 creator A5049748829 @default.
• W2129208097 creator A5061989271 @default.
• W2129208097 creator A5067692711 @default.
• W2129208097 date "1999-01-29" @default.
• W2129208097 modified "2023-10-15" @default.
• W2129208097 title "Lethal neonatal Hutchinson-Gilford progeria syndrome" @default.
• W2129208097 cites W1525110823 @default.
• W2129208097 cites W1973119795 @default.
• W2129208097 cites W1974211378 @default.
• W2129208097 cites W1978240755 @default.
• W2129208097 cites W2010390579 @default.
• W2129208097 cites W2033019215 @default.
• W2129208097 cites W2034219220 @default.
• W2129208097 cites W2042514575 @default.
• W2129208097 cites W2050103995 @default.
• W2129208097 cites W2053144072 @default.
• W2129208097 cites W2053167719 @default.
• W2129208097 cites W2061350174 @default.
• W2129208097 cites W2073589435 @default.
• W2129208097 cites W2074356821 @default.
• W2129208097 cites W2887421063 @default.
• W2129208097 cites W4205345399 @default.
• W2129208097 doi "https://doi.org/10.1002/(sici)1096-8628(19990129)82:3<242::aid-ajmg9>3.0.co;2-e" @default.
• W2129208097 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10215548" @default.
• W2129208097 hasPublicationYear "1999" @default.
• W2129208097 type Work @default.
• W2129208097 sameAs 2129208097 @default.
• W2129208097 citedByCount "43" @default.
• W2129208097 countsByYear W21292080972012 @default.
• W2129208097 countsByYear W21292080972013 @default.
• W2129208097 countsByYear W21292080972014 @default.
• W2129208097 countsByYear W21292080972015 @default.
• W2129208097 countsByYear W21292080972016 @default.
• W2129208097 countsByYear W21292080972017 @default.
• W2129208097 countsByYear W21292080972018 @default.
• W2129208097 countsByYear W21292080972019 @default.
• W2129208097 countsByYear W21292080972020 @default.
• W2129208097 countsByYear W21292080972021 @default.
• W2129208097 countsByYear W21292080972022 @default.
• W2129208097 crossrefType "journal-article" @default.
• W2129208097 hasAuthorship W2129208097A5000896542 @default.
• W2129208097 hasAuthorship W2129208097A5049748829 @default.
• W2129208097 hasAuthorship W2129208097A5061989271 @default.
• W2129208097 hasAuthorship W2129208097A5067692711 @default.
• W2129208097 hasConcept C104317684 @default.
• W2129208097 hasConcept C105702510 @default.
• W2129208097 hasConcept C126322002 @default.
• W2129208097 hasConcept C134018914 @default.
• W2129208097 hasConcept C139542699 @default.
• W2129208097 hasConcept C187212893 @default.
• W2129208097 hasConcept C2776395126 @default.
• W2129208097 hasConcept C2777871287 @default.
• W2129208097 hasConcept C2778465436 @default.
• W2129208097 hasConcept C2779504383 @default.
• W2129208097 hasConcept C2780327212 @default.
• W2129208097 hasConcept C2781133459 @default.
• W2129208097 hasConcept C2909947164 @default.
• W2129208097 hasConcept C42407357 @default.
• W2129208097 hasConcept C54355233 @default.
• W2129208097 hasConcept C71924100 @default.
• W2129208097 hasConcept C86803240 @default.
• W2129208097 hasConceptScore W2129208097C104317684 @default.
• W2129208097 hasConceptScore W2129208097C105702510 @default.
• W2129208097 hasConceptScore W2129208097C126322002 @default.
• W2129208097 hasConceptScore W2129208097C134018914 @default.
• W2129208097 hasConceptScore W2129208097C139542699 @default.
• W2129208097 hasConceptScore W2129208097C187212893 @default.
• W2129208097 hasConceptScore W2129208097C2776395126 @default.
• W2129208097 hasConceptScore W2129208097C2777871287 @default.
• W2129208097 hasConceptScore W2129208097C2778465436 @default.
• W2129208097 hasConceptScore W2129208097C2779504383 @default.
• W2129208097 hasConceptScore W2129208097C2780327212 @default.
• W2129208097 hasConceptScore W2129208097C2781133459 @default.
• W2129208097 hasConceptScore W2129208097C2909947164 @default.
• W2129208097 hasConceptScore W2129208097C42407357 @default.
• W2129208097 hasConceptScore W2129208097C54355233 @default.
• W2129208097 hasConceptScore W2129208097C71924100 @default.
• W2129208097 hasConceptScore W2129208097C86803240 @default.
• W2129208097 hasIssue "3" @default.
• W2129208097 hasLocation W21292080971 @default.
• W2129208097 hasLocation W21292080972 @default.
• W2129208097 hasOpenAccess W2129208097 @default.
• W2129208097 hasPrimaryLocation W21292080971 @default.
• W2129208097 hasRelatedWork W1933875865 @default.
• W2129208097 hasRelatedWork W1965795689 @default.
• W2129208097 hasRelatedWork W1973575500 @default.
• W2129208097 hasRelatedWork W2072813052 @default.
• W2129208097 hasRelatedWork W2129208097 @default.
• W2129208097 hasRelatedWork W2138409013 @default.
• W2129208097 hasRelatedWork W2683507269 @default.
• W2129208097 hasRelatedWork W3189252959 @default.
• W2129208097 hasRelatedWork W4250400435 @default.
• W2129208097 hasRelatedWork W4250981477 @default.
• W2129208097 hasVolume "82" @default.
• W2129208097 isParatext "false" @default.

• next