Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms

Madeleine Fannemel, Tuva Barøy, Asbjørn Holmgren, Olaug K. Rødningen, Trine M. Haugsand, Børre Hansen, Eirik Frengen, Doriana Misceo

European Journal of Medical Genetics · 2014 · 63 citations · 16 references

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