Compound Heterozygosity of PTF1A Exonic and Enhancer Variants in a Japanese Boy With Pancreatic Hypoplasia
Year: 2026
Type: article
Study design: Case Report
Source: Clinical Genetics
DOI: 10.1111/cge.70134
Authors: Michihiko Aramaki, Hibiki Doi, Yuko Kato‐Fukui, Nobuhiko Koga, Kenichi Kashimada, Maki Fukami
Institution: National Center For Child Health and Development
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: closed
Award: G2505489867
OpenAlex ID: W7124267316