The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD

Floris Levy-Khademi*, Sharon Zeligson, Eran Lavi, Tehila Klopstock, Boris Chertin, Carmit Avnon- Ziv, Abdulsalam Abulibdeh, Paul Renbaum, Tzvia Rosen, Shira Perlberg-Bengio, Fouad Zahdeh, Doron M. Behar, Ephrat Levy-Lahad, David Zangen, Reeval Segel

*Corresponding author for this work

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Biochemistry, Genetics and Molecular Biology