Clinical genetics
Compound Heterozygosity of PTF1A Exonic and Enhancer Variants in a Japanese Boy With Pancreatic Hypoplasia.
Michihiko Aramaki, Hibiki Doi, Yuko Kato-Fukui, Nobuhiko Koga, Kenichi Kashimada, Maki Fukami
Published: 202610.1111/cge.70134
Abstract
A Japanese boy carried a paternally inherited single-nucleotide deletion in PTF1A exon 1 (c.775delC) and a maternally inherited nucleotide substitution in the distal enhancer region (g.23508356T>G). Both variants were hitherto unreported. The patient…
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