Matches in DBpedia 2016-04 for { <http://dbpedia.org/resource/Shprintzen–Goldberg_syndrome> ?p ?o }
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- Shprintzen–Goldberg_syndrome abstract "Shprintzen–Goldberg syndrome is a multiple anomaly syndrome that has craniosynostosis, multiple abdominal hernias, cognitive impairment, and other skeletal malformations as key features. Several reports have linked the syndrome to a mutation in the FBN1 gene, but these cases do not resemble those initially described in the medical literature in 1982 by Shprintzen and Goldberg, and Greally et al. in 1998 failed to find a causal link to FBN1. At this time, the cause of Shprintzen–Goldberg syndrome remains uncertain. The syndrome is rare with fewer than 50 cases described in the medical literature to date.".
- Shprintzen–Goldberg_syndrome omim "182212".
- Shprintzen–Goldberg_syndrome wikiPageID "29548888".
- Shprintzen–Goldberg_syndrome wikiPageLength "1864".
- Shprintzen–Goldberg_syndrome wikiPageOutDegree "6".
- Shprintzen–Goldberg_syndrome wikiPageRevisionID "622302017".
- Shprintzen–Goldberg_syndrome wikiPageWikiLink Category:Congenital_disorders.
- Shprintzen–Goldberg_syndrome wikiPageWikiLink Cognitive_deficit.
- Shprintzen–Goldberg_syndrome wikiPageWikiLink Craniosynostosis.
- Shprintzen–Goldberg_syndrome wikiPageWikiLink Hernia.
- Shprintzen–Goldberg_syndrome wikiPageWikiLink Syndrome.
- Shprintzen–Goldberg_syndrome wikiPageWikiLinkText "Shprintzen–Goldberg syndrome".
- Shprintzen–Goldberg_syndrome name "Shprintzen–Goldberg syndrome".
- Shprintzen–Goldberg_syndrome omim "182212".
- Shprintzen–Goldberg_syndrome wikiPageUsesTemplate Template:Congenital-malformation-stub.
- Shprintzen–Goldberg_syndrome wikiPageUsesTemplate Template:Infobox_disease.
- Shprintzen–Goldberg_syndrome wikiPageUsesTemplate Template:Reflist.
- Shprintzen–Goldberg_syndrome subject Category:Congenital_disorders.
- Shprintzen–Goldberg_syndrome hypernym Multiple.
- Shprintzen–Goldberg_syndrome type Disease.
- Shprintzen–Goldberg_syndrome type Disorder.
- Shprintzen–Goldberg_syndrome type Pediatric.
- Shprintzen–Goldberg_syndrome type Thing.
- Shprintzen–Goldberg_syndrome type Q12136.
- Shprintzen–Goldberg_syndrome comment "Shprintzen–Goldberg syndrome is a multiple anomaly syndrome that has craniosynostosis, multiple abdominal hernias, cognitive impairment, and other skeletal malformations as key features. Several reports have linked the syndrome to a mutation in the FBN1 gene, but these cases do not resemble those initially described in the medical literature in 1982 by Shprintzen and Goldberg, and Greally et al. in 1998 failed to find a causal link to FBN1.".
- Shprintzen–Goldberg_syndrome label "Shprintzen–Goldberg syndrome".
- Shprintzen–Goldberg_syndrome sameAs Q3508694.
- Shprintzen–Goldberg_syndrome sameAs Syndrome_de_Shprintzen-Goldberg.
- Shprintzen–Goldberg_syndrome sameAs Zespół_Shprintzena-Goldberga.
- Shprintzen–Goldberg_syndrome sameAs m.0drytsl.
- Shprintzen–Goldberg_syndrome sameAs Q3508694.
- Shprintzen–Goldberg_syndrome wasDerivedFrom Shprintzen–Goldberg_syndrome?oldid=622302017.
- Shprintzen–Goldberg_syndrome isPrimaryTopicOf Shprintzen–Goldberg_syndrome.
- Shprintzen–Goldberg_syndrome name "Shprintzen–Goldberg syndrome".