Matches in SemOpenAlex for { <https://semopenalex.org/work/W2000707352> ?p ?o ?g. }
Showing items 1 to 95 of
95
with 100 items per page.
- W2000707352 endingPage "421" @default.
- W2000707352 startingPage "415" @default.
- W2000707352 abstract "Renpenning syndrome represents a prototypic X-linked mental retardation condition with full expression of the phenotype in males and little or no expression in females. The predominant clinical findings are microcephaly, long narrow face, short stature with lean body build, and small testes. Mental retardation, usually of severe degree, occurs in 95% of cases. Less than 20% of cases have major malformations, the most common being cardiac defects and cleft palate. Subsequent to the description of mutations in the polyglutamine tract binding protein 1 (PQBP1) in Sutherland–Haan syndrome, Hamel cerebropalatocardiac syndrome, MRX55, and two small XLMR families, a single nucleotide insertion has been found in the original family with Renpenning syndrome and an AGAG deletion in a second family with the Renpenning syndrome. Mutations have also been found in Golabi–Ito–Hall syndrome, Porteous syndrome, and an additional small family. It is now demonstrated that five named XLMR syndromes (Sutherland–Haan, Hamel cerebropalatocardiac, Golabi–Ito–Hall, Porteous, and Renpenning), one nonsyndromic family (MRX55), and three small XLMR families have PQBP1 mutations and are thus allelic XLMR entities. In acknowledgement of the historical importance of the original report of Renpenning syndrome [1962], we propose that the entities with PQBP1 mutations be combined under the name of Renpenning syndrome. © 2005 Wiley-Liss, Inc." @default.
- W2000707352 created "2016-06-24" @default.
- W2000707352 creator A5010154627 @default.
- W2000707352 creator A5019367637 @default.
- W2000707352 creator A5050097716 @default.
- W2000707352 creator A5050736545 @default.
- W2000707352 creator A5051780959 @default.
- W2000707352 creator A5067622500 @default.
- W2000707352 creator A5072815495 @default.
- W2000707352 creator A5085945586 @default.
- W2000707352 creator A5091740728 @default.
- W2000707352 date "2005-01-01" @default.
- W2000707352 modified "2023-09-27" @default.
- W2000707352 title "Renpenning syndrome comes into focus" @default.
- W2000707352 cites W1980504878 @default.
- W2000707352 cites W1997557106 @default.
- W2000707352 cites W2010282237 @default.
- W2000707352 cites W2012190032 @default.
- W2000707352 cites W2035702525 @default.
- W2000707352 cites W2035782355 @default.
- W2000707352 cites W2043523342 @default.
- W2000707352 cites W2052486070 @default.
- W2000707352 cites W2062842019 @default.
- W2000707352 cites W2087944287 @default.
- W2000707352 cites W2103266044 @default.
- W2000707352 cites W2108959001 @default.
- W2000707352 cites W2112836982 @default.
- W2000707352 cites W2122969140 @default.
- W2000707352 cites W2137883612 @default.
- W2000707352 doi "https://doi.org/10.1002/ajmg.a.30664" @default.
- W2000707352 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15782410" @default.
- W2000707352 hasPublicationYear "2005" @default.
- W2000707352 type Work @default.
- W2000707352 sameAs 2000707352 @default.
- W2000707352 citedByCount "76" @default.
- W2000707352 countsByYear W20007073522012 @default.
- W2000707352 countsByYear W20007073522013 @default.
- W2000707352 countsByYear W20007073522014 @default.
- W2000707352 countsByYear W20007073522015 @default.
- W2000707352 countsByYear W20007073522016 @default.
- W2000707352 countsByYear W20007073522017 @default.
- W2000707352 countsByYear W20007073522018 @default.
- W2000707352 countsByYear W20007073522019 @default.
- W2000707352 countsByYear W20007073522020 @default.
- W2000707352 countsByYear W20007073522021 @default.
- W2000707352 countsByYear W20007073522022 @default.
- W2000707352 countsByYear W20007073522023 @default.
- W2000707352 crossrefType "journal-article" @default.
- W2000707352 hasAuthorship W2000707352A5010154627 @default.
- W2000707352 hasAuthorship W2000707352A5019367637 @default.
- W2000707352 hasAuthorship W2000707352A5050097716 @default.
- W2000707352 hasAuthorship W2000707352A5050736545 @default.
- W2000707352 hasAuthorship W2000707352A5051780959 @default.
- W2000707352 hasAuthorship W2000707352A5067622500 @default.
- W2000707352 hasAuthorship W2000707352A5072815495 @default.
- W2000707352 hasAuthorship W2000707352A5085945586 @default.
- W2000707352 hasAuthorship W2000707352A5091740728 @default.
- W2000707352 hasConcept C187212893 @default.
- W2000707352 hasConcept C2776395126 @default.
- W2000707352 hasConcept C2777630245 @default.
- W2000707352 hasConcept C2777871287 @default.
- W2000707352 hasConcept C2778107874 @default.
- W2000707352 hasConcept C54355233 @default.
- W2000707352 hasConcept C71924100 @default.
- W2000707352 hasConcept C86803240 @default.
- W2000707352 hasConceptScore W2000707352C187212893 @default.
- W2000707352 hasConceptScore W2000707352C2776395126 @default.
- W2000707352 hasConceptScore W2000707352C2777630245 @default.
- W2000707352 hasConceptScore W2000707352C2777871287 @default.
- W2000707352 hasConceptScore W2000707352C2778107874 @default.
- W2000707352 hasConceptScore W2000707352C54355233 @default.
- W2000707352 hasConceptScore W2000707352C71924100 @default.
- W2000707352 hasConceptScore W2000707352C86803240 @default.
- W2000707352 hasIssue "4" @default.
- W2000707352 hasLocation W20007073521 @default.
- W2000707352 hasLocation W20007073522 @default.
- W2000707352 hasOpenAccess W2000707352 @default.
- W2000707352 hasPrimaryLocation W20007073521 @default.
- W2000707352 hasRelatedWork W1508773032 @default.
- W2000707352 hasRelatedWork W1590722215 @default.
- W2000707352 hasRelatedWork W2000707352 @default.
- W2000707352 hasRelatedWork W2107098333 @default.
- W2000707352 hasRelatedWork W2151343721 @default.
- W2000707352 hasRelatedWork W2398241975 @default.
- W2000707352 hasRelatedWork W3093077638 @default.
- W2000707352 hasRelatedWork W3116658849 @default.
- W2000707352 hasRelatedWork W3184666191 @default.
- W2000707352 hasRelatedWork W3147437875 @default.
- W2000707352 hasVolume "134A" @default.
- W2000707352 isParatext "false" @default.
- W2000707352 isRetracted "false" @default.
- W2000707352 magId "2000707352" @default.
- W2000707352 workType "article" @default.