A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1

Por Stevens, Servi J C, Blom, Eveline W, Siegelaer, Ingrid T J, Smeets, Eric E J G L
Publicado no Eur J Hum Genet (2015)

Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence

Por Tan-Sindhunata, M Brigita, Mathijssen, Inge B, Smit, Margriet, Baas, Frank, de Vries, Johanna I, van der Voorn, J Patrick, Kluijt, Irma, Hagen, Marleen A, Blom, Eveline W, Sistermans, Erik, Meijers-Heijboer, Hanne, Waisfisz, Quinten, Weiss, Marjan M, Groffen, Alexander J
Publicado no Eur J Hum Genet (2015)