A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion,Clinical Genetics

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A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion
Clinical Genetics ( IF 2.9 ) Pub Date : 2021-08-11 , DOI: 10.1111/cge.14043
Noha Musa ₁ , Mohamed A Elmonem ₂ , Christian Beetz ₃ , Mona Hafez ₁ , Mona Hassan ₁ , Arndt Rolfs ₃ , Laila Selim ₄ , Nour Elkhateeb ₄

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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.