Expressivity of Holt-Oram Syndrome Is Not Predicted by TBX5 Genotype

Mutations in TBX5, a T-box–containing transcription factor, cause cardiac and limb malformations in individuals with Holt-Oram syndrome (HOS). Mutations that result in haploinsufficiency of TBX5 are purported to cause cardiac and limb defects of similar severity, whereas missense mutations, dependin...

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Bibliografiska uppgifter
Huvudupphovsmän: Brassington, Anna-Marie E., Sung, Sandy S., Toydemir, Reha M., Le, Trung, Roeder, Amy D., Rutherford, Ann E., Whitby, Frank G., Jorde, Lynn B., Bamshad, Michael J.
Materialtyp: Artigo
Språk:Inglês
Publicerad: The American Society of Human Genetics 2003
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Articles
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180592/
https://ncbi.nlm.nih.gov/pubmed/12789647
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