Yanyan Qian Bingbing Wu Renchao Liu Yulan Lu Ping Zhang Caihong Shao Ying Huang Huijun Wang
10.3389/fgene.2021.668326
Front Genet
2021 May 6;12:668326.
pcsk1 gene diarrhea genetics infant uniparental isodisomy
CC BY
https://pubmed.ncbi.nlm.nih.gov/34025722/
Case Reports
PMC8134681
34025722
Case Report: Complete Maternal Uniparental Isodisomy of Chromosome 5 (iUPD(5)mat) With PCSK1 Nonsense Variant in an Infant With Recurrent Diarrhea
2021