FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2075865900> ?p ?o ?g. }

• W2075865900 endingPage "481" @default.
• W2075865900 startingPage "474" @default.
• W2075865900 abstract "The Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant disorder. It comprises a coarse face, short neck, hirsutism, joint laxity, and normal intelligence. Bone dysplasias, include acro-osteolysis, bathrocephaly, and vertebral anomalies. In 1988, Exner [1988: Eur J Pediatr 147:544–546] coined the term “serpentine fibula-polycystic kidney syndrome” (SFPKS) when he reported on a girl with short stature, unusual facial appearance, polycystic kidneys, and elongated curved fibulae. He postulated that it was a new entity different from the Melnick-Needles syndrome. Since his report, five similar cases have been published. Similarities between both HCS and SFPKS were noticed first by us and then by other authors. In this report we show that many clinical and radiological characteristics are shared by the HCS and the SFPKS and hypothesize that they represent a single entity with a variable degree of expression. Am. J. Med. Genet. 78:474–481, 1998. © 1998 Wiley-Liss, Inc." @default.
• W2075865900 created "2016-06-24" @default.
• W2075865900 creator A5008262289 @default.
• W2075865900 creator A5020371999 @default.
• W2075865900 creator A5021720847 @default.
• W2075865900 creator A5024670218 @default.
• W2075865900 creator A5082621122 @default.
• W2075865900 date "1998-08-06" @default.
• W2075865900 modified "2023-10-02" @default.
• W2075865900 title "Further evidence that the Hajdu-Cheney syndrome and the ?serpentine fibula-polycystic kidney syndrome? are a single entity" @default.
• W2075865900 cites W1514182441 @default.
• W2075865900 cites W1863554061 @default.
• W2075865900 cites W1969575465 @default.
• W2075865900 cites W198511322 @default.
• W2075865900 cites W1985209925 @default.
• W2075865900 cites W1987357455 @default.
• W2075865900 cites W2001616777 @default.
• W2075865900 cites W2008311387 @default.
• W2075865900 cites W2008581457 @default.
• W2075865900 cites W2016271769 @default.
• W2075865900 cites W2016614697 @default.
• W2075865900 cites W2018384183 @default.
• W2075865900 cites W2022933244 @default.
• W2075865900 cites W2024611471 @default.
• W2075865900 cites W2027480353 @default.
• W2075865900 cites W2028333710 @default.
• W2075865900 cites W2028684827 @default.
• W2075865900 cites W2040013805 @default.
• W2075865900 cites W2042310211 @default.
• W2075865900 cites W2048105251 @default.
• W2075865900 cites W2058383340 @default.
• W2075865900 cites W2058543094 @default.
• W2075865900 cites W2060884045 @default.
• W2075865900 cites W2067128679 @default.
• W2075865900 cites W2071309570 @default.
• W2075865900 cites W2084618911 @default.
• W2075865900 cites W2090006657 @default.
• W2075865900 cites W2092435343 @default.
• W2075865900 cites W2115522690 @default.
• W2075865900 cites W2320681043 @default.
• W2075865900 cites W2335641606 @default.
• W2075865900 cites W2401279595 @default.
• W2075865900 cites W2409961552 @default.
• W2075865900 cites W4240451172 @default.
• W2075865900 doi "https://doi.org/10.1002/(sici)1096-8628(19980806)78:5<474::aid-ajmg14>3.0.co;2-c" @default.
• W2075865900 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9714016" @default.
• W2075865900 hasPublicationYear "1998" @default.
• W2075865900 type Work @default.
• W2075865900 sameAs 2075865900 @default.
• W2075865900 citedByCount "31" @default.
• W2075865900 countsByYear W20758659002013 @default.
• W2075865900 countsByYear W20758659002014 @default.
• W2075865900 countsByYear W20758659002016 @default.
• W2075865900 countsByYear W20758659002018 @default.
• W2075865900 countsByYear W20758659002019 @default.
• W2075865900 countsByYear W20758659002020 @default.
• W2075865900 countsByYear W20758659002021 @default.
• W2075865900 countsByYear W20758659002022 @default.
• W2075865900 countsByYear W20758659002023 @default.
• W2075865900 crossrefType "journal-article" @default.
• W2075865900 hasAuthorship W2075865900A5008262289 @default.
• W2075865900 hasAuthorship W2075865900A5020371999 @default.
• W2075865900 hasAuthorship W2075865900A5021720847 @default.
• W2075865900 hasAuthorship W2075865900A5024670218 @default.
• W2075865900 hasAuthorship W2075865900A5082621122 @default.
• W2075865900 hasConcept C105702510 @default.
• W2075865900 hasConcept C106207104 @default.
• W2075865900 hasConcept C134018914 @default.
• W2075865900 hasConcept C16005928 @default.
• W2075865900 hasConcept C2776260777 @default.
• W2075865900 hasConcept C2777236700 @default.
• W2075865900 hasConcept C2777871287 @default.
• W2075865900 hasConcept C71924100 @default.
• W2075865900 hasConceptScore W2075865900C105702510 @default.
• W2075865900 hasConceptScore W2075865900C106207104 @default.
• W2075865900 hasConceptScore W2075865900C134018914 @default.
• W2075865900 hasConceptScore W2075865900C16005928 @default.
• W2075865900 hasConceptScore W2075865900C2776260777 @default.
• W2075865900 hasConceptScore W2075865900C2777236700 @default.
• W2075865900 hasConceptScore W2075865900C2777871287 @default.
• W2075865900 hasConceptScore W2075865900C71924100 @default.
• W2075865900 hasIssue "5" @default.
• W2075865900 hasLocation W20758659001 @default.
• W2075865900 hasLocation W20758659002 @default.
• W2075865900 hasOpenAccess W2075865900 @default.
• W2075865900 hasPrimaryLocation W20758659001 @default.
• W2075865900 hasRelatedWork W1931058408 @default.
• W2075865900 hasRelatedWork W2004512667 @default.
• W2075865900 hasRelatedWork W2075865900 @default.
• W2075865900 hasRelatedWork W2313475658 @default.
• W2075865900 hasRelatedWork W2381114963 @default.
• W2075865900 hasRelatedWork W2387185718 @default.
• W2075865900 hasRelatedWork W2534958020 @default.
• W2075865900 hasRelatedWork W3030320560 @default.
• W2075865900 hasRelatedWork W4285538840 @default.
• W2075865900 hasRelatedWork W4297184974 @default.
• W2075865900 hasVolume "78" @default.
• W2075865900 isParatext "false" @default.

• next