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Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1–q14.2

Split hand-split foot malformation or ectrodactyly is a heterogeneous congenital defect of digit formation. The aim of this study is the mapping of the breakpoints and a detailed molecular characterization of the candidate genes for an isolated and syndromic form of ectrodactyly, both associated wit...

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Hlavní autoři: David, Dezső, Marques, Bárbara, Ferreira, Cristina, Vieira, Paula, Corona-Rivera, Alfredo, Ferreira, José Carlos, van Bokhoven, Hans
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2009
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986556/
https://ncbi.nlm.nih.gov/pubmed/19223936
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.2
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