About: Chromosome 12q13.13 deletions involving the HOXC gene cluster: Phenotype and candidate genes     Goto   Sponge   NotDistinct   Permalink

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Description
  • We conclude that these cases may represent a new genetic disorder caused by hemizygous loss of the HOXC cluster and/or the adjacent genes. The genotype-phenotype correlation and the assignment of causal roles to specific genes will profit from the description of additional patients with this rare syndrome, and from the revision of the phenotype of heterozygous knock out animals.
  • We conclude that these cases may represent a new genetic disorder caused by hemizygous loss of the HOXC cluster and/or the adjacent genes. The genotype-phenotype correlation and the assignment of causal roles to specific genes will profit from the description of additional patients with this rare syndrome, and from the revision of the phenotype of heterozygous knock out animals. (en)
Title
  • Chromosome 12q13.13 deletions involving the HOXC gene cluster: Phenotype and candidate genes
  • Chromosome 12q13.13 deletions involving the HOXC gene cluster: Phenotype and candidate genes (en)
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  • Chromosome 12q13.13 deletions involving the HOXC gene cluster: Phenotype and candidate genes
  • Chromosome 12q13.13 deletions involving the HOXC gene cluster: Phenotype and candidate genes (en)
skos:notation
  • RIV/00216208:11130/13:10209768!RIV14-MSM-11130___
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  • I
http://linked.open...iv/cisloPeriodika
  • 3
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  • 65410
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  • RIV/00216208:11130/13:10209768
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  • homeosis; differentiation; embryonic-development; intellectual disability (en)
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  • NL - Nizozemsko
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  • [9FE561E612CE]
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  • European Journal of Medical Genetics
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  • 56
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  • Koudová, Monika
  • Sedláček, Zdeněk
  • Drábová, Jana
  • Hančárová, Miroslava
  • Petrák, Bořivoj
  • Simandlová, Martina
  • Havlovicová, Markéta
http://linked.open...ain/vavai/riv/wos
  • 000324892400009
issn
  • 1769-7212
number of pages
http://bibframe.org/vocab/doi
  • 10.1016/j.ejmg.2012.12.003
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  • 11130
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