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The Phenotypic Spectrum of ZIC3 Mutations Includes Isolated d-Transposition of the Great Arteries and Double Outlet Right Ventricle

Disease causing mutations for heterotaxy syndrome were first identified in the X-linked laterality gene, ZIC3. Mutations typically result in males with situs ambiguus and complex congenital heart disease; however affected females and one male with isolated d-transposition of the great arteries (d-TG...

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書誌詳細
主要な著者: D’Alessandro, Lisa C. A., Latney, Brande C., Paluru, Prasuna C., Goldmuntz, Elizabeth
フォーマット: Artigo
言語:Inglês
出版事項: 2013
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3707401/
https://ncbi.nlm.nih.gov/pubmed/23427188
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35849
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