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Heterozygous Recurrent HNF4A variant p.Arg85Trp Causes Fanconi Renotubular Syndrome 4 with Maturity Onset Diabetes of the Young, an Autosomal Dominant Phenocopy of Fanconi Bickel Syndrome with Colobomas
Heterozygous pathogenic variants in HNF4A cause hyperinsulinism, maturity onset diabetes of the young type 1, and more rarely Fanconi renotubular syndrome. Specifically, the recurrent point pathogenic variant c.253C >T (p.Arg85Trp) has been associated with a syndromic form of hyperinsulinism with...
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| 出版年: | Am J Med Genet A |
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| 主要な著者: | , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2020
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8132289/ https://ncbi.nlm.nih.gov/pubmed/33251707 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61978 |
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