Homozygous Nonsense Mutations in TWIST2 Cause Setleis Syndrome

The focal facial dermal dysplasias (FFDDs) are a group of inherited developmental disorders in which the characteristic diagnostic feature is bitemporal scar-like lesions that resemble forceps marks. To date, the genetic defects underlying these ectodermal dysplasias have not been determined. To ide...

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Bibliografiska uppgifter
Huvudupphovsmän: Tukel, Turgut, Šošić, Dražen, Al-Gazali, Lihadh I., Erazo, Mónica, Casasnovas, Jose, Franco, Hector L., Richardson, James A., Olson, Eric N., Cadilla, Carmen L., Desnick, Robert J.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Elsevier 2010
Ämnen:
Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2917720/
https://ncbi.nlm.nih.gov/pubmed/20691403
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.07.009
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