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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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| Publicado no: | Am J Med Genet A |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2020
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| Assuntos: | |
| Acesso em linha: | 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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