A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion.
Noha MusaMohamed A ElmonemChristian BeetzMona HafezMona HassanArndt RolfsLaila SelimNour ElkhateebPublished in: Clinical genetics (2021)
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.