A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Genetics"
DOI: 10.1111/cge.14043
Abstract: Up: A schematic-diagram of POU1F1-gene. Down right: an electrophoretogram of the detected novel pathogenic-variant in comparison with wild-type POU1F1 exon-6 sequence. Down left: Family pedigree of the two-siblings reported. read more here.
Keywords: pathogenic variant; variant two; pou1f1; pou1f1 pathogenic ... See more keywords