Matches in SemOpenAlex for { <https://semopenalex.org/work/W1986681411> ?p ?o ?g. }
Showing items 1 to 91 of
91
with 100 items per page.
- W1986681411 endingPage "1108" @default.
- W1986681411 startingPage "1106" @default.
- W1986681411 abstract "Craniotubular dysplasias (CTD) are a heterogeneous group of genetic disorders of skeletal development, whose clinical and etiological classification is still much debated. One of the most common form is the autosomal dominant craniometaphyseal dysplasia (CMD) which is associated with mutation in the ANKH gene. In the literature a few families are reported with CMD phenotype that suggest an autosomal recessive (AR) pattern of inheritance. A candidate locus at 6q21-22 has been mapped in a large inbred Brazilian family, but the gene of the recessive form is still unknown. Our data on a female patient with CMD phenotype, born from healthy first degree cousins and displaying homozygosity for polymorphic markers at the 6q21-22 locus, further support the existence of an AR CMD, expanding its clinical spectrum to a more severe phenotype." @default.
- W1986681411 created "2016-06-24" @default.
- W1986681411 creator A5007378482 @default.
- W1986681411 creator A5016974716 @default.
- W1986681411 creator A5018216248 @default.
- W1986681411 creator A5022442251 @default.
- W1986681411 creator A5059899022 @default.
- W1986681411 creator A5066451505 @default.
- W1986681411 creator A5079909386 @default.
- W1986681411 date "2011-04-04" @default.
- W1986681411 modified "2023-09-25" @default.
- W1986681411 title "Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus" @default.
- W1986681411 cites W1965265115 @default.
- W1986681411 cites W1968830335 @default.
- W1986681411 cites W1969579290 @default.
- W1986681411 cites W1980882532 @default.
- W1986681411 cites W1991778172 @default.
- W1986681411 cites W2000972013 @default.
- W1986681411 cites W2038936173 @default.
- W1986681411 cites W2069832582 @default.
- W1986681411 cites W2079387905 @default.
- W1986681411 cites W2084526481 @default.
- W1986681411 cites W2099173067 @default.
- W1986681411 doi "https://doi.org/10.1002/ajmg.a.33826" @default.
- W1986681411 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21465646" @default.
- W1986681411 hasPublicationYear "2011" @default.
- W1986681411 type Work @default.
- W1986681411 sameAs 1986681411 @default.
- W1986681411 citedByCount "8" @default.
- W1986681411 countsByYear W19866814112013 @default.
- W1986681411 countsByYear W19866814112014 @default.
- W1986681411 countsByYear W19866814112015 @default.
- W1986681411 countsByYear W19866814112016 @default.
- W1986681411 countsByYear W19866814112017 @default.
- W1986681411 crossrefType "journal-article" @default.
- W1986681411 hasAuthorship W1986681411A5007378482 @default.
- W1986681411 hasAuthorship W1986681411A5016974716 @default.
- W1986681411 hasAuthorship W1986681411A5018216248 @default.
- W1986681411 hasAuthorship W1986681411A5022442251 @default.
- W1986681411 hasAuthorship W1986681411A5059899022 @default.
- W1986681411 hasAuthorship W1986681411A5066451505 @default.
- W1986681411 hasAuthorship W1986681411A5079909386 @default.
- W1986681411 hasBestOaLocation W19866814111 @default.
- W1986681411 hasConcept C104317684 @default.
- W1986681411 hasConcept C127716648 @default.
- W1986681411 hasConcept C130895681 @default.
- W1986681411 hasConcept C137627325 @default.
- W1986681411 hasConcept C142724271 @default.
- W1986681411 hasConcept C16671776 @default.
- W1986681411 hasConcept C2775894508 @default.
- W1986681411 hasConcept C2781245598 @default.
- W1986681411 hasConcept C54355233 @default.
- W1986681411 hasConcept C69991583 @default.
- W1986681411 hasConcept C71924100 @default.
- W1986681411 hasConcept C84597430 @default.
- W1986681411 hasConcept C86803240 @default.
- W1986681411 hasConceptScore W1986681411C104317684 @default.
- W1986681411 hasConceptScore W1986681411C127716648 @default.
- W1986681411 hasConceptScore W1986681411C130895681 @default.
- W1986681411 hasConceptScore W1986681411C137627325 @default.
- W1986681411 hasConceptScore W1986681411C142724271 @default.
- W1986681411 hasConceptScore W1986681411C16671776 @default.
- W1986681411 hasConceptScore W1986681411C2775894508 @default.
- W1986681411 hasConceptScore W1986681411C2781245598 @default.
- W1986681411 hasConceptScore W1986681411C54355233 @default.
- W1986681411 hasConceptScore W1986681411C69991583 @default.
- W1986681411 hasConceptScore W1986681411C71924100 @default.
- W1986681411 hasConceptScore W1986681411C84597430 @default.
- W1986681411 hasConceptScore W1986681411C86803240 @default.
- W1986681411 hasIssue "5" @default.
- W1986681411 hasLocation W19866814111 @default.
- W1986681411 hasLocation W19866814112 @default.
- W1986681411 hasOpenAccess W1986681411 @default.
- W1986681411 hasPrimaryLocation W19866814111 @default.
- W1986681411 hasRelatedWork W1986681411 @default.
- W1986681411 hasRelatedWork W2028087115 @default.
- W1986681411 hasRelatedWork W2039102963 @default.
- W1986681411 hasRelatedWork W2048163194 @default.
- W1986681411 hasRelatedWork W2057739827 @default.
- W1986681411 hasRelatedWork W2123723960 @default.
- W1986681411 hasRelatedWork W2320016487 @default.
- W1986681411 hasRelatedWork W2384792751 @default.
- W1986681411 hasRelatedWork W2954044368 @default.
- W1986681411 hasRelatedWork W1592611938 @default.
- W1986681411 hasVolume "155" @default.
- W1986681411 isParatext "false" @default.
- W1986681411 isRetracted "false" @default.
- W1986681411 magId "1986681411" @default.
- W1986681411 workType "article" @default.