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Two pedigrees segregating Duane’s retraction syndrome as a dominant trait map to the DURS2 genetic locus

PURPOSE: To determine the molecular etiologies of Duane’s retraction syndrome (DRS), we are investigating its genetic bases. We have previously identified the transcription factors SALL4 and HOXA1 as the genes mutated in DRS with radial anomalies, and in DRS with deafness, vascular anomalies, and co...

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Detalhes bibliográficos
Main Authors: Engle, Elizabeth C., Andrews, Caroline, Law, Krystal, Demer, Joseph L.
Formato: Artigo
Idioma:Inglês
Publicado em: 2007
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2829295/
https://ncbi.nlm.nih.gov/pubmed/17197532
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.06-0631
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