ArticleAmerican journal of medical genetics. Part A2021

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.

Sarah E Sheppard et al.PubMed ↗Full text ↗Publisher ↗

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