Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus

HOXD genes encode transcription factors involved in the antero-posterior patterning of the limb bud and in the specification of fingers. During the embryo development, HOXD genes are expressed, following a spatio-temporal colinearity that involves at least three regions, centrometric and telomeric t...

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Detalles Bibliográficos
Main Authors: Ghoumid, Jamal, Andrieux, Joris, Sablonnière, Bernard, Odent, Sylvie, Philippe, Nathalie, Zanlonghi, Xavier, Saugier-Veber, Pascale, Bardyn, Thomas, Manouvrier-Hanu, Sylvie, Holder-Espinasse, Muriel
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2011
Assuntos:
Short Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3198150/
https://ncbi.nlm.nih.gov/pubmed/21654727
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.95
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