Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

The Antley-Bixler syndrome has been thought to be caused by an autosomal recessive gene. However, patients with this phenotype have been reported with a new dominant mutation at the FGFR2 locus as well as in the offspring of mothers taking the antifungal agent fluconazole during early pregnancy. In...

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Bibliografiska uppgifter
Huvudupphovsmän: Reardon, W., Smith, A., Honour, J., Hindmarsh, P., Das, D., Rumsby, G., Nelson, I., Malcolm, S., Ades, L., Sillence, D., Kumar, D., DeLozier-Blanchet, C., McKee, S., Kelly, T., McKeehan, W., Baraitser, M., Winter, R.
Materialtyp: Artigo
Språk:Inglês
Publicerad: BMJ Group 2000
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Original Articles
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734444/
https://ncbi.nlm.nih.gov/pubmed/10633130
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.1.26
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