Sheppard, S. E., Barrett, B., Muraresku, C., McKnight, H., De Leon, D. D., Lord, K., & Ganetzky, R. (2020). 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. Am J Med Genet A.

Sheppard, Sarah E., Brett Barrett, Colleen Muraresku, Heather McKnight, Diva D. De Leon, Katherine Lord, i Rebecca Ganetzky. "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." Am J Med Genet A 2020.

Sheppard, Sarah E., et al. "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." Am J Med Genet A 2020.