Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations.

G Barbi, E Rossier, S Vossbeck,H Hummler, D Lang, F Flock, R Terinde,J Wirth, W Vogel, H Kehrer-Sawatzki

Journal of medical genetics(2002)

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