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Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene x gene interactions

Clinical molecular diagnostic centers routinely screen SHH, ZIC2, SIX3 and TGIF for mutations that can help to explain holoprosencephaly and related brain malformations. Here we report a prospective Sanger sequence analysis of 189 unrelated probands referred to our diagnostic lab for genetic testing...

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Bibliografische gegevens
Hoofdauteurs: Roessler, Erich, Vélez, Jorge I., Zhou, Nan, Muenke, Maximilian
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2012
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3309119/
https://ncbi.nlm.nih.gov/pubmed/22310223
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2012.01.005
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