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- Bowen–Conradi_syndrome abstract "Bowen–Conradi syndrome (BCS or BWCNS) is a disease in humans that can affect children. The disease is due to an autosomal recessive abnormality of the EMG1 gene, which plays a role in small ribosomal subunit (SSU) assembly. The preponderance of diagnoses has been in North American Hutterite children, but BWCNS can affect other population groups.BWCNS is a ribosomopathy. A D86G mutation of EMG1 destroys an EcoRV restriction endonuclease site in the most highly conserved region of the protein.Skeletal dysmorphology is seen and severe prenatal and postnatal growth failure usually leads to death by one year of age.".
- Bowen–Conradi_syndrome wikiPageID "46447611".
- Bowen–Conradi_syndrome wikiPageLength "2771".
- Bowen–Conradi_syndrome wikiPageOutDegree "12".
- Bowen–Conradi_syndrome wikiPageRevisionID "678622985".
- Bowen–Conradi_syndrome wikiPageWikiLink Category:Pediatrics.
- Bowen–Conradi_syndrome wikiPageWikiLink Category:Ribosomopathy.
- Bowen–Conradi_syndrome wikiPageWikiLink Dominance_(genetics).
- Bowen–Conradi_syndrome wikiPageWikiLink EMG1.
- Bowen–Conradi_syndrome wikiPageWikiLink EcoRV.
- Bowen–Conradi_syndrome wikiPageWikiLink Endonuclease.
- Bowen–Conradi_syndrome wikiPageWikiLink Eukaryotic_small_ribosomal_subunit_(40S).
- Bowen–Conradi_syndrome wikiPageWikiLink Gene.
- Bowen–Conradi_syndrome wikiPageWikiLink Hutterite.
- Bowen–Conradi_syndrome wikiPageWikiLink Mutation.
- Bowen–Conradi_syndrome wikiPageWikiLink Ribosomopathy.
- Bowen–Conradi_syndrome wikiPageWikiLinkText "Bowen–Conradi syndrome".
- Bowen–Conradi_syndrome hasPhotoCollection Bowen–Conradi_syndrome.
- Bowen–Conradi_syndrome wikiPageUsesTemplate Template:Reflist.
- Bowen–Conradi_syndrome subject Category:Pediatrics.
- Bowen–Conradi_syndrome subject Category:Ribosomopathy.
- Bowen–Conradi_syndrome comment "Bowen–Conradi syndrome (BCS or BWCNS) is a disease in humans that can affect children. The disease is due to an autosomal recessive abnormality of the EMG1 gene, which plays a role in small ribosomal subunit (SSU) assembly. The preponderance of diagnoses has been in North American Hutterite children, but BWCNS can affect other population groups.BWCNS is a ribosomopathy.".
- Bowen–Conradi_syndrome label "Bowen–Conradi syndrome".
- Bowen–Conradi_syndrome sameAs m.0134hwpf.
- Bowen–Conradi_syndrome wasDerivedFrom Bowen–Conradi_syndrome?oldid=678622985.
- Bowen–Conradi_syndrome isPrimaryTopicOf Bowen–Conradi_syndrome.